A28D (p.Ala28Asp) variant of ERCC5 (P28715)
A28D (p.Ala28Asp) 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 0.58 / 1. The record also includes published literature and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- rs267607281
- ClinGen CA261269
- ClinVar RCV000034376
- UniProt VAR 075773
- Pathogenic
- Xeroderma pigmentosum, group G
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic (Xeroderma pigmentosum, group G)
- EBI: Pathogenic (in XP-G)
- UniProt: Pathogenic (in XP-G)
- Structural context available
- 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)