L22* (p.Leu22Ter) variant of BRCA1 (P38398)
L22* (p.Leu22Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
L22* (p.Leu22Ter) variant details
- p.Leu22Ter
- rs80357438
- ClinGen CA10585945
- ClinVar RCV000239088
- ClinVar RCV000660988
- Pathogenic
- in BC
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.777
- MetaLR 0.79
- MetaSVM 0.67
- CADD 26.50
- EVE 0.86
- MutPred 0.92
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.14
- 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)