D30Y (p.Asp30Tyr) variant of DNM1 (Dynamin-1)
D30Y (p.Asp30Tyr) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- gnomAD 9-128203558-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available