E46* (p.Glu46Ter) variant of OPTN (Optineurin)
E46* (p.Glu46Ter) in OPTN (Optineurin) is a protein-truncating change. The record also includes structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- ExAC rs767309978
- TOPMed rs767309978
- gnomAD rs767309978
- Stop Gained
- Structural context available