Q294K (p.Gln294Lys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q294K (p.Gln294Lys) 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; Niemann-Pick disease, type A; Niemann-Pick disease, typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q294K (p.Gln294Lys) variant details
- p.Gln294Lys
- rs120074128
- ClinGen CA115901
- ClinVar RCV000003128
- ClinVar RCV000003129
- Pathogenic
- Inborn genetic diseases; Niemann-Pick disease, type A; Niemann-Pick disease, typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.91
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Inborn genetic diseases; Niemann-Pick disease, type A; Niemann-P)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and… (PMID 15241805)
- Cited in: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of… (PMID 15877209)