G168R (p.Gly168Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G168R (p.Gly168Arg) 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; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G168R (p.Gly168Arg) variant details
- p.Gly168Arg
- rs1847910654
- ClinGen CA379369663
- cosmic curated COSV10813
- ClinVar RCV001262263
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A; Sphi)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of… (PMID 15877209)
- Cited in: Clinical findings in Niemann-Pick disease type B. (PMID 16472269)