P47H (p.Pro47His) variant of XPA (P23025)
P47H (p.Pro47His) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P47H (p.Pro47His) variant details
- p.Pro47His
- gnomAD rs1829075986
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.32
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available