P96A (p.Pro96Ala) variant of XPA (P23025)
P96A (p.Pro96Ala) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P96A (p.Pro96Ala) variant details
- p.Pro96Ala
- Ensembl rs573834910
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available