E12* (p.Glu12Ter) variant of CACNA1C (Q13936)
E12* (p.Glu12Ter) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- rs1555076111
- gnomAD 12-2053596-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available