E19Q (p.Glu19Gln) variant of BARD1 (Q99728)
E19Q (p.Glu19Gln) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- ExAC rs752514155
- TOPMed rs752514155
- gnomAD rs752514155
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.25
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available