Y16C (p.Tyr16Cys) variant of ERCC2 (P18074)
Y16C (p.Tyr16Cys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ovarian cancer; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs147972150
- ClinGen CA158761
- ClinVar RCV000120770
- ClinVar RCV000893772
- Conflicting interpretations
- Ovarian cancer; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.77
- CADD 26.70
- PolyPhen-2 0.76
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Ovarian cancer; not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)