V2G (p.Val2Gly) variant of CACNA1B (Q00975)
V2G (p.Val2Gly) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V2G (p.Val2Gly) variant details
- p.Val2Gly
- gnomAD 9-137877938-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.38
- MetaLR 0.67
- MetaSVM 0.05
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available