L35M (p.Leu35Met) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L35M (p.Leu35Met) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
L35M (p.Leu35Met) variant details
- p.Leu35Met
- 1000Genomes rs201367689
- ESP rs201367689
- TOPMed rs201367689
- gnomAD rs201367689
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available