V13S (p.Val13Ser) variant of DNM1 (Dynamin-1)
V13S (p.Val13Ser) in DNM1 (Dynamin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V13S (p.Val13Ser) variant details
- p.Val13Ser
- gnomAD 9-128203505-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available