A19P (p.Ala19Pro) variant of DNM1 (Dynamin-1)
A19P (p.Ala19Pro) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 9-128203525-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.88
- CADD 29.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available