V8M (p.Val8Met) variant of CACNA1E (Q15878)
V8M (p.Val8Met) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD 1-181413150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available