K12N (p.Lys12Asn) variant of ERCC3 (P19447)
K12N (p.Lys12Asn) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes published literature and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- rs2468071881
- ClinGen CA348392419
- ClinVar RCV003154705
- Benign
- Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- ESM-1b 0.00
- AlphaMissense 0.52
- ClinVar: Benign (Ovarian cancer)
- EBI: Benign
- UniProt: Benign
- 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)