R3P (p.Arg3Pro) variant of XPC (Q01831)
R3P (p.Arg3Pro) 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 0.17 / 1. The record also includes population frequency data and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- ESP rs369735922
- ExAC rs369735922
- TOPMed rs369735922
- gnomAD rs369735922
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.11
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available