S308F (p.Ser308Phe) variant of SLC35A2 (UDP-galactose translocator)
S308F (p.Ser308Phe) 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. The record also includes published literature and structural context.
S308F (p.Ser308Phe) variant details
- p.Ser308Phe
- rs2519644564
- ClinGen CA412894810
- ClinVar RCV003740887
- Pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- ClinVar: Pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC35A2-CDG: novel variants with two ends of the spectrum. (PMID 34161696)