G109E (p.Gly109Glu) variant of XPA (P23025)
G109E (p.Gly109Glu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G109E (p.Gly109Glu) variant details
- p.Gly109Glu
- ExAC rs761457416
- TOPMed rs761457416
- gnomAD rs761457416
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.28
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available