A48S (p.Ala48Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A48S (p.Ala48Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- ExAC rs766902025
- Missense
- Structural context available