H36Q (p.His36Gln) variant of BARD1 (Q99728)
H36Q (p.His36Gln) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- rs1445402241
- ClinGen CA350464996
- ClinVar RCV001017240
- TOPMed rs1445402241
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.34
- CADD 25.30
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)