E18K (p.Glu18Lys) variant of OPTN (Optineurin)
E18K (p.Glu18Lys) in OPTN (Optineurin) is a missense change. The record also includes structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- cosmic curated COSV53811
- Missense
- Structural context available