E83D (p.Glu83Asp) variant of HTT (Huntingtin)
E83D (p.Glu83Asp) in HTT (Huntingtin) is a missense change. The record also includes variant effect predictions and structural context.
E83D (p.Glu83Asp) variant details
- p.Glu83Asp
- TOPMed rs1372453864
- gnomAD rs1372453864
- Missense
- MetaLR 0.01
- MetaSVM -1.00
- SIFT 0.02
- Structural context available