S16Y (p.Ser16Tyr) variant of BARD1 (Q99728)
S16Y (p.Ser16Tyr) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S16Y (p.Ser16Tyr) variant details
- p.Ser16Tyr
- rs1326565823
- ClinGen CA350465280
- ClinVar RCV003585986
- TOPMed rs1326565823
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- CADD 25.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)