A39S (p.Ala39Ser) variant of BARD1 (Q99728)
A39S (p.Ala39Ser) in BARD1 (Q99728) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- cosmic curated COSV10729
- ExAC rs753630023
- gnomAD rs753630023
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.25
- CADD 21.90
- PolyPhen-2 0.38
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available