G95R (p.Gly95Arg) variant of XPA (P23025)
G95R (p.Gly95Arg) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Xeroderma pigmentosum; Xeroderma pigmentosum group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G95R (p.Gly95Arg) variant details
- p.Gly95Arg
- rs2490237534
- ClinGen CA374187933
- ClinVar RCV003557460
- ClinVar RCV004574099
- Pathogenic/Likely pathogenic
- not provided; Xeroderma pigmentosum; Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.28
- CADD 35.00
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Xeroderma pigmentosum; Xeroderma pigmentosum group)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)