M1L (p.Met1Leu) variant of SLC35A2 (UDP-galactose translocator)
M1L (p.Met1Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1042469070
- ClinGen CA412899022
- ClinVar RCV002246722
- Pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- MetaLR 0.32
- MetaSVM -0.55
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available