G68R (p.Gly68Arg) variant of SLC37A4 (O43826)
G68R (p.Gly68Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- rs193302885
- UniProt VAR 025588
- TOPMed rs193302885
- gnomAD rs193302885
- Pathogenic/Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the REMAINING population (allele frequency 1.7e-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)