H427R (p.His427Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
H427R (p.His427Arg) 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 Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H427R (p.His427Arg) variant details
- p.His427Arg
- rs794727629
- ClinGen CA217301956
- ClinVar RCV000689782
- ClinVar RCV000778333
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.98
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. (PMID 20386867)
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)