A42V (p.Ala42Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A42V (p.Ala42Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- Ensembl rs200577287
- Missense
- Population evidence available
- Structural context available