E46V (p.Glu46Val) variant of OPTN (Optineurin)
E46V (p.Glu46Val) in OPTN (Optineurin) is a missense change. The record also includes structural context.
E46V (p.Glu46Val) variant details
- p.Glu46Val
- ExAC rs750001433
- TOPMed rs750001433
- gnomAD rs750001433
- Missense
- Structural context available