A50T (p.Ala50Thr) variant of XPA (P23025)
A50T (p.Ala50Thr) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- TOPMed rs1300025362
- gnomAD rs1300025362
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.08
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available