A40P (p.Ala40Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A40P (p.Ala40Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type A. The record also includes published literature and structural context.
A40P (p.Ala40Pro) variant details
- p.Ala40Pro
- rs1299899778
- ClinGen CA379367284
- ClinVar RCV000666400
- TOPMed rs1299899778
- Uncertain significance
- Niemann-Pick disease, type A
- Missense
- ClinVar: Uncertain significance (Niemann-Pick disease, type A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)