G16E (p.Gly16Glu) variant of SLC35A2 (UDP-galactose translocator)
G16E (p.Gly16Glu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- rs1173827222
- ClinGen CA412898850
- ClinVar RCV004459199
- TOPMed rs1173827222
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.07
- CADD 17.70
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in CDG2M)
- UniProt: Uncertain significance (in CDG2M)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)