V17M (p.Val17Met) variant of CACNB2 (Q08289)
V17M (p.Val17Met) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- gnomAD 10-18140785-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available