A484E (p.Ala484Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A484E (p.Ala484Glu) 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 not specified; Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A484E (p.Ala484Glu) variant details
- p.Ala484Glu
- rs267607075
- ClinGen CA252527
- ClinVar RCV000003130
- ClinVar RCV000780737
- Pathogenic/Likely pathogenic
- not specified; Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.86
- CADD 24.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not specified; Niemann-Pick disease, type A; Niemann-Pick diseas)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. (PMID 19405096)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)