I23T (p.Ile23Thr) variant of DNM1 (Dynamin-1)
I23T (p.Ile23Thr) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- gnomAD 9-128203538-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.83
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available