S33F (p.Ser33Phe) variant of CACNA1E (Q15878)
S33F (p.Ser33Phe) in CACNA1E (Q15878) is a missense 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.
S33F (p.Ser33Phe) variant details
- p.Ser33Phe
- gnomAD 1-181413235-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available