E4* (p.Glu4Ter) variant of CACNA1C (Q13936)
E4* (p.Glu4Ter) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- rs1555075942
- gnomAD 12-2053572-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available