A54E (p.Ala54Glu) variant of XPA (P23025)
A54E (p.Ala54Glu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- Ensembl rs1044632915
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.22
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.75
- Population evidence available
- Structural context available