P96L (p.Pro96Leu) variant of XPA (P23025)
P96L (p.Pro96Leu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P96L (p.Pro96Leu) variant details
- p.Pro96Leu
- gnomAD 9-97689636-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.58
- MetaLR 0.46
- MetaSVM -0.17
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available