S486R (p.Ser486Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S486R (p.Ser486Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S486R (p.Ser486Arg) variant details
- p.Ser486Arg
- rs281860665
- TOPMed rs281860665
- gnomAD rs281860665
- ClinGen CA217302419
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.92
- CADD 28.00
- ClinVar: Pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)