P24A (p.Pro24Ala) variant of BARD1 (Q99728)
P24A (p.Pro24Ala) 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.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs1048108
- ClinGen CA350465166
- ClinVar RCV002367348
- ClinVar RCV003896146
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign (in dbSNP:rs1048108)
- UniProt: Benign (in dbSNP:rs1048108)
- Most common in the REMAINING population (allele frequency 6.7e-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)