R476W (p.Arg476Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R476W (p.Arg476Trp) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; Niemann-Pick disease, type B; Niemann-Pick disease, type A. 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.
R476W (p.Arg476Trp) variant details
- p.Arg476Trp
- rs182812968
- ClinGen CA221147
- ClinVar RCV000169170
- ClinVar RCV000178791
- Pathogenic
- not specified; Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.93
- AlphaMissense 0.23
- MetaLR 0.91
- MetaSVM 1.03
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not specified; Niemann-Pick disease, type B; Niemann-Pick diseas)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)
- Cited in: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of… (PMID 15877209)