H423Y (p.His423Tyr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
H423Y (p.His423Tyr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H423Y (p.His423Tyr) variant details
- p.His423Tyr
- rs120074126
- ClinGen CA252523
- ClinVar RCV000003126
- ClinVar RCV000192225
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.82
- CADD 25.50
- PolyPhen-2 0.60
- SIFT 0.03
- ClinVar: Pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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: Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of… (PMID 18815062)