P9L (p.Pro9Leu) variant of XPA (P23025)
P9L (p.Pro9Leu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- ExAC rs779912540
- TOPMed rs779912540
- gnomAD rs779912540
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- REVEL 0.05
- CADD 9.07
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available