V8L (p.Val8Leu) variant of CACNA1E (Q15878)
V8L (p.Val8Leu) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- gnomAD 1-181413150-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available