L9H (p.Leu9His) variant of DNM1 (Dynamin-1)
L9H (p.Leu9His) 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.
L9H (p.Leu9His) variant details
- p.Leu9His
- gnomAD 9-128203496-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.91
- CADD 29.80
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available