A11S (p.Ala11Ser) variant of SLC35A2 (UDP-galactose translocator)
A11S (p.Ala11Ser) 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; SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs927789077
- ClinGen CA329102028
- ClinVar RCV001907707
- ClinVar RCV005278921
- Uncertain significance
- Inborn genetic diseases; SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- CADD 12.30
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases; SLC35A2-congenital disorder of glycosyl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0034)
- 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)