A45V (p.Ala45Val) variant of XPA (P23025)
A45V (p.Ala45Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- TOPMed rs1438104861
- gnomAD rs1438104861
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.12
- CADD 23.70
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available