Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters PassNo variant
Allele Count202
Allele Number14611041521881613292
Allele Frequency0.0000013690.000001240
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

19102200.00001099
1117983808.476e-7
07497200.000
05993800.000
02958800.000
04483400.000
06363400.000
0606000.000
091200.000
06249400.000
XX181199600.000001232
XY180129600.000001248
Total2161329200.000001240
Include:

Related Variants

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. NAT2

      1. ENST00000286479.4
        MANE Select transcript for NAT2
        HGVSp
        p.Thr259Ile
        Domains
      2. ENST00000520116.1
        HGVSp
        p.Thr129Ile
        Domains

In Silico Predictors

  • CADD: 0.874
  • REVEL: 0.0290
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.146
  • PolyPhen (max): 0.00500
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 8-18400000-18401000

Read more about this constraint.

ExpectedObservedConstraint
215.5200Z = 1.05
o/e = 0.93
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 8-18380779-18420779

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 quality012Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00M6.50MExome variants8.990e+2

Value: 8.990e+2 (exome samples)

Site quality approximation for all doubleton variants.

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

Read Data


Always load read data