A19T (p.Ala19Thr) variant of DNM1 (Dynamin-1)
A19T (p.Ala19Thr) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 9-128203525-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.71
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available