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Genomes
Filters Pass
Allele Count10
Allele Number152134
Allele Frequency0.00006573
Grpmax Filtering AF
(95% confidence)
0.00004764
European (non-Finnish)
Number of homozygotes0
Mean depth of coverage30.7

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Genetic Ancestry Group Frequencies

1482600.0002072
21527000.0001310
76804600.0001029
01060400.000
090800.000
0519800.000
031600.000
04140600.000
0347200.000
0208800.000
XX27783800.00002569
XY87429600.0001077
Total1015213400.00006573
Include:

Related Variants

Variant Effect Predictor

This variant falls on 13 transcripts in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. missense

    1. COPA

      1. ENST00000241704.8
        MANE Select transcript for COPA
        HGVSp
        p.Gln1051Glu
        Domains
        Polyphen
        benign
        SIFT
        tolerated
      2. ENST00000368069.7
        Ensembl canonical transcript for COPA
        HGVSp
        p.Gln1060Glu
        Domains
        Polyphen
        benign
        SIFT
        tolerated
      3. ENST00000647683.1
        HGVSp
        p.Gln1031Glu
        Domains
        Polyphen
        benign
        SIFT
        tolerated
  2. non coding transcript exon

    1. COPA

      1. ENST00000647693.1
        HGVSc
        n.4072C>G
  3. 3' UTR

    1. COPA

      1. ENST00000647799.1
        HGVSc
        c.*2505C>G
      2. ENST00000648501.1
        HGVSc
        c.*2259C>G
      3. ENST00000648805.1
        HGVSc
        c.*1682C>G

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • REVEL: 0.211
  • CADD: 22.7
  • SpliceAI: 0.00 (no_consequence)
  • PrimateAI: 0.710

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 1-160291000-160292000

Read more about this constraint.

ExpectedObservedConstraint
189134Z = 4
o/e = 0.71
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-160271926-160311926

ClinVar

ClinVar Variation ID
970584
Germline classification
Conflicting classifications of pathogenicity
Review status
criteria provided, conflicting classifications (1 star)
Last evaluated
December 27, 2023

or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012345678910Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants1.785e+4

Value: 1.785e+4 (genome samples)

Site quality approximation for all variants with 0.00005 <= AF < 0.0001.

Read Data


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