P12H (p.Pro12His) variant of CACNA1E (Q15878)
P12H (p.Pro12His) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- gnomAD 1-181413190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available