R48L (p.Arg48Leu) variant of CACNA1E (Q15878)
R48L (p.Arg48Leu) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- rs1001802936
- gnomAD 1-181413289-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 25.20
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available