Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters PassPass
Allele Count54559
Allele Number14618861521321614018
Allele Frequency0.000036940.000032870.00003655
Grpmax Filtering AF
(95% confidence)
0.00003982
African/African American
0.00002846
European (non-Finnish)
0.00003259
European (non-Finnish)
Number of homozygotes000

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

47490600.00005340
36248800.00004801
50118005600.00004237
15999000.00001667
19109000.00001098
02960600.000
04488600.000
06400000.000
0608400.000
091200.000
XX2781247200.00003323
XY3280154600.00003992
Total59161401800.00003655
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 2 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. CYP4F22

      1. ENST00000269703.8
        MANE Select transcript for CYP4F22
        HGVSp
        p.Arg257His
        Domains
      2. ENST00000601005.2
        HGVSp
        p.Arg257His
        Domains

In Silico Predictors

  • CADD: 13.8
  • REVEL: 0.210
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.367
  • PolyPhen (max): 0.00300
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.

ClinVar

ClinVar Variation ID
1985912
Conditions
not provided
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
September 29, 2022

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> 80Age012345Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality0510152025303540455055Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants05.00M10.0M15.0M20.0M25.0M30.0MGenome variants3.190e+31.445e+5

Value: 1.445e+5 (exome samples), 3.190e+3 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

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

Read Data


Always load read data