Y11C (p.Tyr11Cys) variant of ERCC2 (P18074)
Y11C (p.Tyr11Cys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group D; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Y11C (p.Tyr11Cys) variant details
- p.Tyr11Cys
- rs748033766
- ClinGen CA9513953
- cosmic curated COSV55544
- ClinVar RCV001136197
- Uncertain significance
- Xeroderma pigmentosum, group D; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.58
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group D; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)