G47C (p.Gly47Cys) variant of CACNA1C (Q13936)
G47C (p.Gly47Cys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- gnomAD 12-1971201-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available