D95G (p.Asp95Gly) variant of XPC (Q01831)
D95G (p.Asp95Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D95G (p.Asp95Gly) variant details
- p.Asp95Gly
- gnomAD rs1457289989
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available