A51D (p.Ala51Asp) variant of CACNA1E (Q15878)
A51D (p.Ala51Asp) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- gnomAD 1-181413316-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available