Y448C (p.Tyr448Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y448C (p.Tyr448Cys) 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 Niemann-Pick disease, type B; Niemann-Pick disease, type A. 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.
Y448C (p.Tyr448Cys) variant details
- p.Tyr448Cys
- rs747143343
- ClinGen CA5852881
- ClinVar RCV001004367
- ClinVar RCV001384265
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.90
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient… (PMID 8693491)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)