R43W (p.Arg43Trp) variant of ERCC5 (P28715)
R43W (p.Arg43Trp) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Xeroderma pigmentosum, group G. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs750156480
- ClinGen CA7041057
- NCI-TCGA Cosmic COSV6324
- cosmic curated COSV63244
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Xeroderma pigmentosum, group G
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Xeroderma pigmentosum,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)