R100G (p.Arg100Gly) variant of XPC (Q01831)
R100G (p.Arg100Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R100G (p.Arg100Gly) variant details
- p.Arg100Gly
- TOPMed rs1425193237
- gnomAD rs1425193237
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.20
- CADD 24.20
- PolyPhen-2 0.40
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available