V103A (p.Val103Ala) variant of XPA (P23025)
V103A (p.Val103Ala) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V103A (p.Val103Ala) variant details
- p.Val103Ala
- gnomAD 9-97689615-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.93
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available