P96H (p.Pro96His) variant of XPA (P23025)
P96H (p.Pro96His) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P96H (p.Pro96His) variant details
- p.Pro96His
- gnomAD 9-97689636-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.55
- MetaLR 0.46
- MetaSVM -0.11
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available