R498L (p.Arg498Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R498L (p.Arg498Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R498L (p.Arg498Leu) variant details
- p.Arg498Leu
- rs120074117
- ClinGen CA252505
- ClinVar RCV000003114
- ClinVar RCV000192227
- Pathogenic
- Inborn genetic diseases; not provided; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available
- Cited in: Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private… (PMID 15221801)
- Cited in: Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of… (PMID 18815062)