A42E (p.Ala42Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A42E (p.Ala42Glu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes population frequency data and structural context.
A42E (p.Ala42Glu) variant details
- p.Ala42Glu
- Ensembl rs200577287
- Missense
- Population evidence available
- Structural context available