R17C (p.Arg17Cys) variant of XPC (Q01831)
R17C (p.Arg17Cys) in XPC (Q01831) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- ExAC rs752392227
- gnomAD rs752392227
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0814
- REVEL 0.03
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available