D30E (p.Asp30Glu) variant of DNM1 (Dynamin-1)
D30E (p.Asp30Glu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- gnomAD 9-128203560-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available