P29H (p.Pro29His) variant of CACNA1E (Q15878)
P29H (p.Pro29His) 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.
P29H (p.Pro29His) variant details
- p.Pro29His
- gnomAD 1-181413223-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available