R158S (p.Arg158Ser) variant of SLC2A2 (P11168)
R158S (p.Arg158Ser) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi-Bickel syndrome; Type 2 diabetes mellitus. The record also includes published literature and structural context.
R158S (p.Arg158Ser) variant details
- p.Arg158Ser
- rs2473906384
- ClinGen CA355491582
- ClinVar RCV003988984
- ClinVar RCV005038642
- Likely pathogenic
- Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- Missense
- ClinVar: Likely pathogenic (Fanconi-Bickel syndrome; Type 2 diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)