E7Q (p.Glu7Gln) variant of DNM1 (Dynamin-1)
E7Q (p.Glu7Gln) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- gnomAD 9-128203489-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.48
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available