I34L (p.Ile34Leu) variant of DNM1 (Dynamin-1)
I34L (p.Ile34Leu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I34L (p.Ile34Leu) variant details
- p.Ile34Leu
- gnomAD 9-128203570-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.75
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available