R58K (p.Arg58Lys) variant of XPC (Q01831)
R58K (p.Arg58Lys) 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 0.14 / 1. The record also includes population frequency data and structural context.
R58K (p.Arg58Lys) variant details
- p.Arg58Lys
- ExAC rs759651595
- gnomAD rs759651595
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.07
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available