E27V (p.Glu27Val) variant of BARD1 (Q99728)
E27V (p.Glu27Val) 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.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- rs989352819
- ClinGen CA350465128
- ClinVar RCV001185081
- Ensembl rs989352819
- 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)