A25S (p.Ala25Ser) variant of BARD1 (Q99728)
A25S (p.Ala25Ser) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- rs751646468
- ClinGen CA350465155
- ClinVar RCV004518522
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.20
- CADD 7.32
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)