S22C (p.Ser22Cys) variant of CACNA1C (Q13936)
S22C (p.Ser22Cys) in CACNA1C (Q13936) 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 and published literature.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- rs1418424825
- gnomAD 12-1971124-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 19.30
- Population evidence available
- Literature evidence available