G150R (p.Gly150Arg) variant of SLC37A4 (O43826)
G150R (p.Gly150Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glucose-6-phosphate transport defect; Phosphate transport defect; Congenital dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G150R (p.Gly150Arg) variant details
- p.Gly150Arg
- rs193302883
- UniProt VAR 025592
- TOPMed rs193302883
- gnomAD rs193302883
- Pathogenic/Likely pathogenic
- Glucose-6-phosphate transport defect; Phosphate transport defect; Congenital dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 24.50
- PolyPhen-2 0.35
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Glucose-6-phosphate transport defect; Phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage… (PMID 9758626)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)