S37R (p.Ser37Arg) variant of BARD1 (Q99728)
S37R (p.Ser37Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- rs1064793565
- ClinGen CA350464993
- ClinVar RCV002430738
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.49
- CADD 24.30
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)