W118R (p.Trp118Arg) variant of SLC37A4 (O43826)
W118R (p.Trp118Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
W118R (p.Trp118Arg) variant details
- p.Trp118Arg
- rs80356489
- UniProt VAR 007850
- TOPMed rs80356489
- gnomAD rs80356489
- Pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter… (PMID 10482875)
- Cited in: Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method… (PMID 15059622)