R29C (p.Arg29Cys) variant of XPC (Q01831)
R29C (p.Arg29Cys) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs765599107
- ClinGen CA351543657
- ClinVar RCV003238414
- ExAC rs765599107
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available