A46V (p.Ala46Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A46V (p.Ala46Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- Ensembl rs1299705847
- Missense
- Structural context available