G20D (p.Gly20Asp) variant of SLC37A4 (O43826)
G20D (p.Gly20Asp) 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; Congenital disorder of glycosylation, type. 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.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs193302881
- UniProt VAR 025581
- TOPMed rs193302881
- gnomAD rs193302881
- Pathogenic/Likely pathogenic
- Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely 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 4.4e-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)