Y9* (p.Tyr9Ter) variant of CACNA1C (Q13936)
Y9* (p.Tyr9Ter) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y9* (p.Tyr9Ter) variant details
- p.Tyr9Ter
- gnomAD 12-1971101-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available