E83K (p.Glu83Lys) variant of SLC2A2 (P11168)
E83K (p.Glu83Lys) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Fanconi-Bickel syndrome; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- rs150851401
- ClinGen CA2702732
- ClinVar RCV000253307
- ClinVar RCV000274009
- Conflicting interpretations
- not specified; Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; Fanconi-Bickel syndrome; Type 2 diabetes mellitus)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)