D18Y (p.Asp18Tyr) variant of DNM1 (Dynamin-1)
D18Y (p.Asp18Tyr) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- gnomAD 9-128203522-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.83
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available