L60S (p.Leu60Ser) variant of SLC35A2 (UDP-galactose translocator)
L60S (p.Leu60Ser) 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. The record also includes structural context.
L60S (p.Leu60Ser) variant details
- p.Leu60Ser
- rs2519660755
- ClinGen CA412897790
- ClinVar RCV003582685
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available