A47S (p.Ala47Ser) variant of CACNA1E (Q15878)
A47S (p.Ala47Ser) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- gnomAD 1-181413282-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available