C82F (p.Cys82Phe) variant of SLC35A2 (UDP-galactose translocator)
C82F (p.Cys82Phe) 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 0.53 / 1. The record also includes published literature and structural context.
C82F (p.Cys82Phe) variant details
- p.Cys82Phe
- rs1557043622
- ClinGen CA412897640
- ClinVar RCV000560194
- UniProt VAR 087471
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.99
- MetaLR 0.33
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Pathogenic (in CDG2M)
- UniProt: Pathogenic (in CDG2M)
- Structural context available
- Cited in: SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported… (PMID 30817854)
- Cited in: A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and… (PMID 34384782)