C433R (p.Cys433Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C433R (p.Cys433Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type B; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C433R (p.Cys433Arg) variant details
- p.Cys433Arg
- rs779528546
- ClinGen CA5852850
- ClinVar RCV001004366
- ClinVar RCV002549241
- Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.94
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)