A27E (p.Ala27Glu) variant of DNM1 (Dynamin-1)
A27E (p.Ala27Glu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- gnomAD 9-128203550-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.18
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available