V17G (p.Val17Gly) variant of CACNB2 (Q08289)
V17G (p.Val17Gly) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V17G (p.Val17Gly) variant details
- p.Val17Gly
- TOPMed rs530601558
- gnomAD rs530601558
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.48
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available