G6W (p.Gly6Trp) variant of XPA (P23025)
G6W (p.Gly6Trp) 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 0.17 / 1. The record also includes population frequency data and structural context.
G6W (p.Gly6Trp) variant details
- p.Gly6Trp
- rs200218050
- NCI-TCGA Cosmic COSV6430
- ExAC rs200218050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.19
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available