A48P (p.Ala48Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A48P (p.Ala48Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes structural context.
A48P (p.Ala48Pro) variant details
- p.Ala48Pro
- ExAC rs766902025
- Missense
- Structural context available