R46S (p.Arg46Ser) variant of CACNA1E (Q15878)
R46S (p.Arg46Ser) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- gnomAD 1-181413252-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available