G109R (p.Gly109Arg) variant of XPA (P23025)
G109R (p.Gly109Arg) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- gnomAD rs1398242554
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.62
- CADD 26.60
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available