S250R (p.Ser250Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S250R (p.Ser250Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S250R (p.Ser250Arg) variant details
- p.Ser250Arg
- rs750779804
- ClinGen CA5852678
- ClinVar RCV000409846
- ClinVar RCV000780730
- Likely pathogenic
- not specified; Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.52
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A)
- EBI: Pathogenic (in NPDA and NPDB)
- UniProt: Pathogenic (in NPDA and NPDB)
- Most common in the South Asian population (allele frequency 2.3e-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)