L129I (p.Leu129Ile) variant of SLC2A2 (P11168)
L129I (p.Leu129Ile) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Fanconi-Bickel syndrome. The record also includes structural context.
L129I (p.Leu129Ile) variant details
- p.Leu129Ile
- TOPMed rs1715814283
- Uncertain significance
- Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- Missense
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available