A47A (p.Ala47Ala) variant of CACNA1E (Q15878)
A47A (p.Ala47Ala) in CACNA1E (Q15878) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A47A (p.Ala47Ala) variant details
- p.Ala47Ala
- gnomAD 1-181413284-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available