D18T (p.Asp18Thr) variant of DNM1 (Dynamin-1)
D18T (p.Asp18Thr) in DNM1 (Dynamin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D18T (p.Asp18Thr) variant details
- p.Asp18Thr
- gnomAD 9-128203519-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available