L39V (p.Leu39Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L39V (p.Leu39Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- cosmic curated COSV54966
- Ensembl rs1847864154
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available