E7K (p.Glu7Lys) variant of DNM1 (Dynamin-1)
E7K (p.Glu7Lys) in DNM1 (Dynamin-1) is a missense 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.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD 9-128203489-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.75
- CADD 26.30
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available