G282R (p.Gly282Arg) variant of SLC35A2 (UDP-galactose translocator)
G282R (p.Gly282Arg) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SLC35A2-congenital disorder of glycosylation; not provided. 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.
G282R (p.Gly282Arg) variant details
- p.Gly282Arg
- rs2063478987
- ClinGen CA412895094
- ClinVar RCV001091019
- ClinVar RCV002557952
- Pathogenic
- SLC35A2-congenital disorder of glycosylation; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.82
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (SLC35A2-congenital disorder of glycosylation; not provided)
- EBI: Pathogenic (found in a patient with West syndrome)
- UniProt: Pathogenic (found in a patient with West syndrome)
- Population evidence available
- Structural context available
- Cited in: Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. (PMID 25877686)
- Cited in: Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel… (PMID 30834435)