A50V (p.Ala50Val) variant of XPA (P23025)
A50V (p.Ala50Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- TOPMed rs1443173071
- gnomAD rs1443173071
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available