A116P (p.Ala116Pro) variant of SLC35A2 (UDP-galactose translocator)
A116P (p.Ala116Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A116P (p.Ala116Pro) variant details
- p.Ala116Pro
- rs1557043133
- ClinGen CA412896686
- ClinVar RCV000523416
- UniProt VAR 087473
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Likely pathogenic (not provided)
- 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: Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (PMID 23561849)