E103V (p.Glu103Val) variant of SLC35A2 (UDP-galactose translocator)
E103V (p.Glu103Val) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital disorder of glycosylation. The record also includes published literature and structural context.
E103V (p.Glu103Val) variant details
- p.Glu103Val
- rs2519651770
- ClinGen CA412896817
- ClinVar RCV003152647
- Likely pathogenic
- Congenital disorder of glycosylation
- Missense
- ClinVar: Likely pathogenic (Congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview – RETIRED CHAPTER, FOR HISTORICAL… (PMID 20301507)