S22A (p.Ser22Ala) variant of CACNA1E (Q15878)
S22A (p.Ser22Ala) in CACNA1E (Q15878) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S22A (p.Ser22Ala) variant details
- p.Ser22Ala
- gnomAD 1-181413214-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.50
- Population evidence available
- Structural context available
- Literature evidence available