R5P (p.Arg5Pro) variant of BARD1 (Q99728)
R5P (p.Arg5Pro) 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.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- rs587782499
- ClinGen CA168497
- ClinVar RCV000131628
- Ensembl rs587782499
- 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)