E140D (p.Glu140Asp) variant of HTT (Huntingtin)
E140D (p.Glu140Asp) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
E140D (p.Glu140Asp) variant details
- p.Glu140Asp
- ESP rs372355130
- ExAC rs372355130
- TOPMed rs372355130
- gnomAD rs372355130
- Missense
- MetaLR 0.25
- MetaSVM -0.72
- SIFT 0.00
- Population evidence available
- Structural context available