E7D (p.Glu7Asp) variant of DNM1 (Dynamin-1)
E7D (p.Glu7Asp) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- ExAC rs769986411
- gnomAD rs769986411
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.39
- CADD 18.10
- PolyPhen-2 0.14
- SIFT 0.12
- Population evidence available
- Structural context available