A45D (p.Ala45Asp) variant of XPA (P23025)
A45D (p.Ala45Asp) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A45D (p.Ala45Asp) variant details
- p.Ala45Asp
- TOPMed rs1438104861
- gnomAD rs1438104861
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available