K114* (p.Lys114Ter) variant of SLC35A2 (UDP-galactose translocator)
K114* (p.Lys114Ter) in SLC35A2 (UDP-galactose translocator) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K114* (p.Lys114Ter) variant details
- p.Lys114Ter
- rs2063491273
- ClinGen CA412896705
- ClinVar RCV001331522
- Ensembl rs2063491273
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available