E50V (p.Glu50Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E50V (p.Glu50Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The record also includes variant effect predictions and structural context.
E50V (p.Glu50Val) variant details
- p.Glu50Val
- ExAC rs770404622
- Missense
- MetaLR 0.98
- MetaSVM 1.33
- SIFT 0.07
- Structural context available