T268I (p.Thr268Ile) variant of SLC35A2 (UDP-galactose translocator)
T268I (p.Thr268Ile) 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 0.50 / 1. The record also includes structural context.
T268I (p.Thr268Ile) variant details
- p.Thr268Ile
- rs2147486594
- ClinGen CA412895182
- ClinVar RCV001814875
- Ensembl rs2147486594
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.84
- MetaLR 0.24
- MetaSVM -0.61
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available