W968C (p.Trp968Cys) variant of ERCC5 (P28715)
W968C (p.Trp968Cys) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Xeroderma pigmentosum, group G. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature.
W968C (p.Trp968Cys) variant details
- p.Trp968Cys
- rs267607280
- ClinGen CA261272
- ClinVar RCV000034377
- UniProt VAR 075774
- Pathogenic
- Xeroderma pigmentosum, group G
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- MutPred 0.71
- ClinVar: Pathogenic (Xeroderma pigmentosum, group G)
- EBI: Pathogenic (in XP-G)
- UniProt: Pathogenic (in XP-G)
- Cited in: Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. (PMID 23255472)
- Cited in: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (PMID 10447254)