Q17* (p.Gln17Ter) variant of DNM1 (Dynamin-1)
Q17* (p.Gln17Ter) in DNM1 (Dynamin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q17* (p.Gln17Ter) variant details
- p.Gln17Ter
- gnomAD 9-128203519-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available