I34T (p.Ile34Thr) variant of DNM1 (Dynamin-1)
I34T (p.Ile34Thr) 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.
I34T (p.Ile34Thr) variant details
- p.Ile34Thr
- gnomAD 9-128203571-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.95
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available