Y267C (p.Tyr267Cys) variant of SLC35A2 (UDP-galactose translocator)
Y267C (p.Tyr267Cys) 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 0.62 / 1. The record also includes published literature and structural context.
Y267C (p.Tyr267Cys) variant details
- p.Tyr267Cys
- rs869312860
- ClinGen CA357924
- ClinVar RCV000210405
- UniProt VAR 086841
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.97
- MetaLR 0.44
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Novel genetic causes for cerebral visual impairment. (PMID 26350515)
- Cited in: Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel… (PMID 30834435)