A6V (p.Ala6Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A6V (p.Ala6Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs1230304707
- gnomAD rs1230304707
- Missense
- Structural context available