R3W (p.Arg3Trp) variant of XPC (Q01831)
R3W (p.Arg3Trp) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- ExAC rs774690269
- TOPMed rs774690269
- gnomAD rs774690269
- Uncertain significance
- Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.22
- CADD 24.20
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available