D18G (p.Asp18Gly) variant of DNM1 (Dynamin-1)
D18G (p.Asp18Gly) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- gnomAD 9-128203523-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.85
- CADD 27.30
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available