D18E (p.Asp18Glu) variant of DNM1 (Dynamin-1)
D18E (p.Asp18Glu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- gnomAD 9-128203524-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.65
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available