D30G (p.Asp30Gly) variant of DNM1 (Dynamin-1)
D30G (p.Asp30Gly) 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.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- gnomAD 9-128203559-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.80
- CADD 29.20
- PolyPhen-2 0.66
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available