G69R (p.Gly69Arg) variant of XPC (Q01831)
G69R (p.Gly69Arg) 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; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- rs533660155
- ClinGen CA2267777
- ClinVar RCV002258652
- ClinVar RCV002488645
- Uncertain significance
- Xeroderma pigmentosum, group C; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.27
- CADD 17.50
- PolyPhen-2 0.73
- SIFT 0.07
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C; Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)