R602H (p.Arg602His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R602H (p.Arg602His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Niemann-Pick disease, type B; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R602H (p.Arg602His) variant details
- p.Arg602His
- rs370129081
- ClinGen CA274179
- ClinVar RCV000169329
- ClinVar RCV001208506
- Pathogenic
- not provided; Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.74
- CADD 28.90
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Pathogenic (not provided; Niemann-Pick disease, type B; Niemann-Pick disease)
- EBI: Pathogenic (in NPDB and NPDA)
- UniProt: Pathogenic (in NPDB and NPDA)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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: Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type… (PMID 16010684)