E27D (p.Glu27Asp) variant of CACNB2 (Q08289)
E27D (p.Glu27Asp) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- ExAC rs762401616
- TOPMed rs762401616
- gnomAD rs762401616
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.18
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available