T59M (p.Thr59Met) variant of SLC35A2 (UDP-galactose translocator)
T59M (p.Thr59Met) 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 not specified; SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T59M (p.Thr59Met) variant details
- p.Thr59Met
- rs782218448
- ClinGen CA10406184
- ClinVar RCV001894161
- ExAC rs782218448
- Uncertain significance
- not specified; SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.44
- CADD 25.50
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available