L48M (p.Leu48Met) variant of OPTN (Optineurin)
L48M (p.Leu48Met) in OPTN (Optineurin) is a missense change. The record also includes structural context.
L48M (p.Leu48Met) variant details
- p.Leu48Met
- Ensembl rs2131481238
- Missense
- Structural context available