G149E (p.Gly149Glu) variant of SLC37A4 (O43826)
G149E (p.Gly149Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G149E (p.Gly149Glu) variant details
- p.Gly149Glu
- rs193302892
- UniProt VAR 003184
- ExAC rs193302892
- gnomAD rs193302892
- Pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.60
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)
- Cited in: Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter… (PMID 10482875)