A2V (p.Ala2Val) variant of XPA (P23025)
A2V (p.Ala2Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- ExAC rs760890900
- gnomAD rs760890900
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.19
- CADD 21.50
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available