L12P (p.Leu12Pro) variant of DNM1 (Dynamin-1)
L12P (p.Leu12Pro) 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.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 9-128203505-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available