R56G (p.Arg56Gly) variant of XPC (Q01831)
R56G (p.Arg56Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- gnomAD rs1290300546
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.27
- CADD 18.70
- PolyPhen-2 0.42
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available