K8E (p.Lys8Glu) variant of CACNB2 (Q08289)
K8E (p.Lys8Glu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- ExAC rs78722981
- gnomAD rs78722981
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.27
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available