L52M (p.Leu52Met) variant of CACNA1E (Q15878)
L52M (p.Leu52Met) 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.
L52M (p.Leu52Met) variant details
- p.Leu52Met
- gnomAD 1-181413168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available