L16P (p.Leu16Pro) variant of DNM1 (Dynamin-1)
L16P (p.Leu16Pro) in DNM1 (Dynamin-1) is a missense 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.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 9-128203517-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.85
- CADD 30.00
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available