E7* (p.Glu7Ter) variant of DNM1 (Dynamin-1)
E7* (p.Glu7Ter) in DNM1 (Dynamin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- gnomAD 9-128203489-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available