G339D (p.Gly339Asp) variant of SLC37A4 (O43826)
G339D (p.Gly339Asp) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital disorder of glycosylation, type IIw; Phosphate transport defect; Gluc. 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.
G339D (p.Gly339Asp) variant details
- p.Gly339Asp
- rs121908980
- UniProt VAR 025601
- TOPMed rs121908980
- Pathogenic/Likely pathogenic
- Congenital disorder of glycosylation, type IIw; Phosphate transport defect; Gluc
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital disorder of glycosylation, type IIw; Phosphate transp)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Glycogen storage disease type Ib without neutropenia. (PMID 10931421)
- Cited in: Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. (PMID 11949931)