S22E (p.Ser22Glu) variant of CACNA1E (Q15878)
S22E (p.Ser22Glu) in CACNA1E (Q15878) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S22E (p.Ser22Glu) variant details
- p.Ser22Glu
- gnomAD 1-181413214-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 17.30
- Population evidence available
- Structural context available
- Literature evidence available