K78R (p.Lys78Arg) variant of SLC35A2 (UDP-galactose translocator)
K78R (p.Lys78Arg) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
K78R (p.Lys78Arg) variant details
- p.Lys78Arg
- rs1569511572
- ClinGen CA412897667
- ClinVar RCV000766228
- Ensembl rs1569511572
- Pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.85
- MetaLR 0.65
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available