A51V (p.Ala51Val) variant of CACNA1E (Q15878)
A51V (p.Ala51Val) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- gnomAD 1-181413316-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available