G57V (p.Gly57Val) variant of XPA (P23025)
G57V (p.Gly57Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- Ensembl rs950281583
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.19
- CADD 33.00
- PolyPhen-2 0.45
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available