E81K (p.Glu81Lys) variant of XPA (P23025)
E81K (p.Glu81Lys) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- Ensembl rs1828958728
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.04
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available