T112R (p.Thr112Arg) variant of SLC35A2 (UDP-galactose translocator)
T112R (p.Thr112Arg) 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 0.08 / 1. The record also includes published literature and structural context.
T112R (p.Thr112Arg) variant details
- p.Thr112Arg
- rs1557043139
- ClinGen CA412896715
- ClinVar RCV001267207
- gnomAD rs1557043139
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0828
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)