R28H (p.Arg28His) variant of SLC37A4 (O43826)
R28H (p.Arg28His) 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; Congenital disorder of glycosylation, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs121908978
- UniProt VAR 016840
- ExAC rs121908978
- gnomAD rs121908978
- Pathogenic
- Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glucose-6-phosphate transport defect; Congenital disorder of gly)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)
- Cited in: Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. (PMID 11949931)