R58G (p.Arg58Gly) variant of XPC (Q01831)
R58G (p.Arg58Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- gnomAD rs1370217743
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available