L41R (p.Leu41Arg) variant of BARD1 (Q99728)
L41R (p.Leu41Arg) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
L41R (p.Leu41Arg) variant details
- p.Leu41Arg
- rs2106170996
- ClinGen CA350464934
- ClinVar RCV002259223
- Ensembl rs2106170996
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)