L43* (p.Leu43Ter) variant of BRIP1 (Fanconi anemia group J protein)
L43* (p.Leu43Ter) in BRIP1 (Fanconi anemia group J protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
L43* (p.Leu43Ter) variant details
- p.Leu43Ter
- rs2545472842
- ClinGen CA400485810
- ClinVar RCV002383286
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)