V13L (p.Val13Leu) variant of DNM1 (Dynamin-1)
V13L (p.Val13Leu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- gnomAD 9-128203507-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.82
- CADD 28.20
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available