C159R (p.Cys159Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C159R (p.Cys159Arg) 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 Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C159R (p.Cys159Arg) variant details
- p.Cys159Arg
- rs727504166
- ClinGen CA273374
- ClinVar RCV000153979
- ClinVar RCV000723416
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.95
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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: Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive. (PMID 8407868)