P12L (p.Pro12Leu) variant of CACNA1E (Q15878)
P12L (p.Pro12Leu) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD 1-181413154-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available