A41S (p.Ala41Ser) variant of XPA (P23025)
A41S (p.Ala41Ser) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A41S (p.Ala41Ser) variant details
- p.Ala41Ser
- Ensembl rs1829077718
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available