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ExomesGenomesTotal
Filters PassNo variant
Allele Count101
Allele Number10879791136521201631
Allele Frequency9.191e-78.322e-7
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00
Number of hemizygotes00

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Genetic Ancestry Group Frequencies

146214000.00002164
057569000.000
044883000.000
021874000.000
033332000.000
04349000.000
0890190000.000
0687000.000
055271000.000
047262000.000
XX1810236000.000001234
XY0391395000.000
Total11201631008.322e-7

Hemizygote counts are not available for subpopulations.

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Related Variants

Variant Effect Predictor

This variant falls on 3 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. UBA1

      1. ENST00000335972.11
        MANE Select transcript for UBA1
        HGVSp
        p.Ala580Val
        Domains
      2. ENST00000377351.8
        HGVSp
        p.Ala580Val
        Domains
  2. splice region

    1. UBA1

      1. ENST00000490869.1
        HGVSc
        n.498C>T

In Silico Predictors

  • CADD: 33.0
  • REVEL: 0.695
  • SpliceAI: 0.130
  • Pangolin: 0.150
  • phyloP: 4.63
  • PolyPhen (max): 0.936
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00MExome variants4.370e+2

Value: 4.370e+2 (exome samples)

Site quality approximation for all singleton variants.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

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