R378H (p.Arg378His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R378H (p.Arg378His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R378H (p.Arg378His) variant details
- p.Arg378His
- rs559088058
- ClinGen CA5852797
- NCI-TCGA Cosmic COSV5496
- cosmic curated COSV54967
- Conflicting interpretations
- not provided; Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Sphingomyelin/cholesterol lipidosis; Niemann-Pick)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)