L172P (p.Leu172Pro) variant of SLC35A2 (UDP-galactose translocator)
L172P (p.Leu172Pro) 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 SLC35A2-congenital disorder of glycosylation. The record also includes structural context.
L172P (p.Leu172Pro) variant details
- p.Leu172Pro
- rs2519647187
- ClinGen CA412895801
- ClinVar RCV001004665
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available