A792V (p.Ala792Val) variant of ERCC5 (P28715)
A792V (p.Ala792Val) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3; Xeroderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
A792V (p.Ala792Val) variant details
- p.Ala792Val
- rs121434571
- ClinGen CA257528
- cosmic curated COSV10968
- ClinVar RCV000018035
- Likely pathogenic
- Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3; Xeroderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndro)
- EBI: Pathogenic (in XP-G)
- UniProt: Pathogenic (in XP-G)
- Population evidence available
- Cited in: XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS… (PMID 17466625)
- Cited in: Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. (PMID 7951246)