E19G (p.Glu19Gly) variant of XPA (P23025)
E19G (p.Glu19Gly) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- Ensembl rs1829083820
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.22
- Population evidence available
- Structural context available