M1K (p.Met1Lys) variant of SLC35A2 (UDP-galactose translocator)
M1K (p.Met1Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1602347908
- ClinGen CA412899019
- ClinVar RCV000823050
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- MetaLR 0.37
- MetaSVM -0.26
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available