V17L (p.Val17Leu) variant of CACNB2 (Q08289)
V17L (p.Val17Leu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD 10-18140785-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available