A45T (p.Ala45Thr) variant of XPA (P23025)
A45T (p.Ala45Thr) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- TOPMed rs1346748246
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Structural context available