G2C (p.Gly2Cys) variant of DNM1 (Dynamin-1)
G2C (p.Gly2Cys) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- gnomAD 9-128203474-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available