G579S (p.Gly579Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G579S (p.Gly579Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G579S (p.Gly579Ser) variant details
- p.Gly579Ser
- rs120074119
- ClinGen CA252509
- ClinVar RCV000003116
- ClinVar RCV001248875
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.72
- CADD 23.40
- PolyPhen-2 0.32
- SIFT 0.14
- ClinVar: Pathogenic/Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of… (PMID 15877209)
- Cited in: Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (PMID 1718266)