R300C (p.Arg300Cys) variant of SLC37A4 (O43826)
R300C (p.Arg300Cys) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R300C (p.Arg300Cys) variant details
- p.Arg300Cys
- rs193302880
- UniProt VAR 066397
- ExAC rs193302880
- TOPMed rs193302880
- Pathogenic/Likely pathogenic
- not provided; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type… (PMID 10482962)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)