A47G (p.Ala47Gly) variant of CACNA1E (Q15878)
A47G (p.Ala47Gly) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A47G (p.Ala47Gly) variant details
- p.Ala47Gly
- gnomAD 1-181413283-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available