V2I (p.Val2Ile) variant of CACNA1B (Q00975)
V2I (p.Val2Ile) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V2I (p.Val2Ile) variant details
- p.Val2Ile
- gnomAD 9-137877937-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.38
- MetaLR 0.72
- MetaSVM -0.04
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available