L485P (p.Leu485Pro) variant of ERCC2 (P18074)
L485P (p.Leu485Pro) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Xeroderma pigmentosum, group D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L485P (p.Leu485Pro) variant details
- p.Leu485Pro
- rs121913025
- ClinGen CA257628
- ClinVar RCV000018282
- UniProt VAR 017283
- Pathogenic
- Xeroderma pigmentosum, group D
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.85
- CADD 25.10
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Pathogenic (Xeroderma pigmentosum, group D)
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the… (PMID 11709541)
- Cited in: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (PMID 10447254)