S22A (p.Ser22Ala) variant of CACNA1C (Q13936)
S22A (p.Ser22Ala) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
S22A (p.Ser22Ala) variant details
- p.Ser22Ala
- gnomAD 12-2115234-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 29.70
- Population evidence available
- Literature evidence available