L3* (p.Leu3Ter) variant of BRCA1 (P38398)
L3* (p.Leu3Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
L3* (p.Leu3Ter) variant details
- p.Leu3Ter
- rs397509332
- ClinGen CA003956
- ClinVar RCV000562883
- ClinVar RCV000577822
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.9
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 Y2H: score -2.17
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)