I26V (p.Ile26Val) variant of ERCC5 (P28715)
I26V (p.Ile26Val) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Xeroderma pigmentosum, group G; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs371937705
- ClinGen CA7040959
- ClinVar RCV001109706
- ClinVar RCV002259081
- Benign/Likely benign
- not provided; Xeroderma pigmentosum, group G; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.15
- ClinVar: Benign/Likely benign (not provided; Xeroderma pigmentosum, group G; Hereditary cancer-)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- 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)