D18N (p.Asp18Asn) variant of DNM1 (Dynamin-1)
D18N (p.Asp18Asn) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- gnomAD 9-128203522-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.65
- CADD 29.10
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available