R55L (p.Arg55Leu) variant of SLC35A2 (UDP-galactose translocator)
R55L (p.Arg55Leu) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of non-lesional focal epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- rs1557043650
- ClinGen CA412897847
- ClinVar RCV001849582
- TOPMed rs1557043650
- Likely pathogenic
- non-lesional focal epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.99
- MetaLR 0.35
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (non-lesional focal epilepsy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. (PMID 29679388)
- Cited in: Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel… (PMID 30834435)