L54V (p.Leu54Val) variant of OPTN (Optineurin)
L54V (p.Leu54Val) in OPTN (Optineurin) is a missense change. The record also includes structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- Ensembl rs1554768275
- Missense
- Structural context available