G95G (p.Gly95Gly) variant of XPA (P23025)
G95G (p.Gly95Gly) in XPA (P23025) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G95G (p.Gly95Gly) variant details
- p.Gly95Gly
- rs530809213
- gnomAD 9-97689638-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 12.40
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Literature evidence available