A3E (p.Ala3Glu) variant of SLC35A2 (UDP-galactose translocator)
A3E (p.Ala3Glu) 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 0.41 / 1. The record also includes population frequency data and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- rs946472167
- ClinGen CA412898987
- ClinVar RCV003582890
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.15
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available