D8Y (p.Asp8Tyr) variant of DNM1 (Dynamin-1)
D8Y (p.Asp8Tyr) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- gnomAD 9-128203492-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available