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 0.49 / 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 0.486
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM -0.03
- PolyPhen-2 0.95
- SIFT 0.07
- EVE 0.41
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -1.11
- 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)