G79V (p.Gly79Val) variant of SLC35A2 (UDP-galactose translocator)
G79V (p.Gly79Val) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC35A2-congenital disorder of glycosylation; not provided. The record also includes population frequency data and structural context.
G79V (p.Gly79Val) variant details
- p.Gly79Val
- rs1057524438
- ClinGen CA16608935
- ClinVar RCV000423604
- ClinVar RCV000536070
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation; not provided
- Missense
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available