V2A (p.Val2Ala) variant of CACNA1B (Q00975)
V2A (p.Val2Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD 9-137877938-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.24
- MetaLR 0.31
- MetaSVM -0.42
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available