R25H (p.Arg25His) variant of CACNA1E (Q15878)
R25H (p.Arg25His) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs1215271452
- gnomAD 1-181413244-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 22.20
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available