A38D (p.Ala38Asp) variant of CACNA1E (Q15878)
A38D (p.Ala38Asp) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- gnomAD 1-181413265-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available