R46L (p.Arg46Leu) variant of CACNA1E (Q15878)
R46L (p.Arg46Leu) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- gnomAD 1-181413253-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available