A19D (p.Ala19Asp) variant of DNM1 (Dynamin-1)
A19D (p.Ala19Asp) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 9-128203526-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.88
- CADD 25.70
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available