G33V (p.Gly33Val) variant of CACNB2 (Q08289)
G33V (p.Gly33Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- gnomAD 10-18140834-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available