E6* (p.Glu6Ter) variant of CACNA1E (Q15878)
E6* (p.Glu6Ter) in CACNA1E (Q15878) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- gnomAD 1-181413192-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available