G247S (p.Gly247Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G247S (p.Gly247Ser) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G247S (p.Gly247Ser) variant details
- p.Gly247Ser
- rs587779408
- ClinGen CA267590
- ClinVar RCV000087097
- ClinVar RCV000169278
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.95
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDA and NPDB)
- UniProt: Pathogenic (in NPDA and NPDB)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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: Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private… (PMID 15221801)