Y109* (p.Tyr109Ter) variant of SLC35A2 (UDP-galactose translocator)

Name: SLC35A2 Y109* (p.Tyr109Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-02
License: https://catvariant.com/terms-of-use

Y109* (p.Tyr109Ter) in SLC35A2 (UDP-galactose translocator) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes structural context.

Y109* (p.Tyr109Ter) variant details

p.Tyr109Ter
rs2147489736
ClinGen CA412896733
ClinVar RCV001385378
Ensembl rs2147489736
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.0427
AlphaMissense 0.04
EBI: Pathogenic
UniProt: Pathogenic
Structural context available