A12G (p.Ala12Gly) variant of SLC35A2 (UDP-galactose translocator)
A12G (p.Ala12Gly) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- rs1557044100
- ClinGen CA412898878
- ClinVar RCV001038379
- ClinVar RCV002551417
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation; Inborn genetic dis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-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)