R3G (p.Arg3Gly) variant of XPC (Q01831)
R3G (p.Arg3Gly) in XPC (Q01831) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- ExAC rs774690269
- TOPMed rs774690269
- gnomAD rs774690269
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.15
- CADD 23.50
- PolyPhen-2 0.48
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available