R12P (p.Arg12Pro) variant of XPC (Q01831)
R12P (p.Arg12Pro) in XPC (Q01831) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- 1000Genomes rs539858805
- ExAC rs539858805
- TOPMed rs539858805
- gnomAD rs539858805
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.16
- CADD 18.80
- PolyPhen-2 0.40
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available