E29D (p.Glu29Asp) variant of XPA (P23025)
E29D (p.Glu29Asp) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- TOPMed rs1318340274
- gnomAD rs1318340274
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available