R11H (p.Arg11His) variant of CACNA1E (Q15878)
R11H (p.Arg11His) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs1657992369
- gnomAD 1-181413181-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 20.50
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available