A3S (p.Ala3Ser) variant of XPA (P23025)
A3S (p.Ala3Ser) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- Ensembl rs1564052844
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- CADD 8.17
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available