E6del (p.Glu6del) variant of CACNA1E (Q15878)
E6del (p.Glu6del) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E6del (p.Glu6del) variant details
- gnomAD 1-181483758-GGGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available