E7G (p.Glu7Gly) variant of DNM1 (Dynamin-1)
E7G (p.Glu7Gly) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- gnomAD 9-128203490-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available