G16R (p.Gly16Arg) variant of SLC35A2 (UDP-galactose translocator)
G16R (p.Gly16Arg) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- gnomAD rs1557044094
- UniProt VAR 089714
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.03
- CADD 20.60
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance (in CDG2M)
- UniProt: Uncertain significance (in CDG2M)
- Population evidence available
- Structural context available
- Cited in: Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation. (PMID 37069668)
- Cited in: Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (PMID 23561849)