S22G (p.Ser22Gly) variant of CACNA1E (Q15878)
S22G (p.Ser22Gly) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- gnomAD 1-181413219-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available