G32D (p.Gly32Asp) variant of BARD1 (Q99728)
G32D (p.Gly32Asp) in BARD1 (Q99728) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- TOPMed rs587782675
- gnomAD rs587782675
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available