A40T (p.Ala40Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A40T (p.Ala40Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- TOPMed rs1299899778
- gnomAD rs1299899778
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available