L858P (p.Leu858Pro) variant of ERCC5 (P28715)
L858P (p.Leu858Pro) 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 0.83 / 1. The record also includes published literature.
L858P (p.Leu858Pro) variant details
- p.Leu858Pro
- rs121434575
- ClinGen CA257531
- cosmic curated COSV63247
- ClinVar RCV000018041
- Pathogenic
- Xeroderma pigmentosum, group G
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- MutPred 0.83
- ClinVar: Pathogenic (Xeroderma pigmentosum, group G)
- EBI: Pathogenic (in XP-G)
- UniProt: Pathogenic (in XP-G)
- Cited in: Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. (PMID 10026181)
- Cited in: The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. (PMID 11841555)