A34V (p.Ala34Val) variant of ERCC2 (P18074)
A34V (p.Ala34Val) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- ExAC rs745939392
- TOPMed rs745939392
- gnomAD rs745939392
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- CADD 23.90
- PolyPhen-2 0.08
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available