R29S (p.Arg29Ser) variant of XPC (Q01831)
R29S (p.Arg29Ser) 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 0.19 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- ExAC rs765599107
- gnomAD rs765599107
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.05
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available