E29G (p.Glu29Gly) variant of XPA (P23025)
E29G (p.Glu29Gly) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- ExAC rs768702767
- TOPMed rs768702767
- gnomAD rs768702767
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available