W393G (p.Trp393Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W393G (p.Trp393Gly) 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.
W393G (p.Trp393Gly) variant details
- p.Trp393Gly
- rs120074125
- ClinGen CA115899
- ClinVar RCV000003125
- ClinVar RCV000410490
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- 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 Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick… (PMID 7762557)
- Cited in: A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. (PMID 8051942)