G6R (p.Gly6Arg) variant of XPA (P23025)
G6R (p.Gly6Arg) in XPA (P23025) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs200218050
- NCI-TCGA Cosmic COSV6430
- ExAC rs200218050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.05
- CADD 7.68
- PolyPhen-2 0.00
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available