A52V (p.Ala52Val) variant of XPA (P23025)
A52V (p.Ala52Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD rs1205446893
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.5e-05)
- Structural context available