A22G (p.Ala22Gly) variant of XPA (P23025)
A22G (p.Ala22Gly) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- TOPMed rs1829083218
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.27
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available