R28C (p.Arg28Cys) variant of SLC37A4 (O43826)
R28C (p.Arg28Cys) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Glucose-6-phosphate transport defect; Phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs193302882
- UniProt VAR 025584
- ExAC rs193302882
- TOPMed rs193302882
- Pathogenic
- not provided; Glucose-6-phosphate transport defect; Phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Glucose-6-phosphate transport defect; Phosphate tr)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the South Asian population (allele frequency 3.5e-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)