R46H (p.Arg46His) variant of CACNA1E (Q15878)
R46H (p.Arg46His) 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.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs1358018967
- gnomAD 1-181413253-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 22.50
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Literature evidence available