L45M (p.Leu45Met) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L45M (p.Leu45Met) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- ExAC rs761899078
- Missense
- Structural context available