P12T (p.Pro12Thr) variant of BARD1 (Q99728)
P12T (p.Pro12Thr) 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.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD rs1182316664
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available