R7* (p.Arg7Ter) variant of CACNA1C (Q13936)
R7* (p.Arg7Ter) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs759475921
- gnomAD 12-1971069-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available