R46C (p.Arg46Cys) variant of CACNA1E (Q15878)
R46C (p.Arg46Cys) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs1658002237
- gnomAD 1-181413252-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available