D65E (p.Asp65Glu) variant of SLC2A2 (P11168)
D65E (p.Asp65Glu) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi-Bickel syndrome; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs1217666649
- ClinGen CA355493515
- ClinVar RCV002976364
- ClinVar RCV005028091
- Uncertain significance
- Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.21
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome; Type 2 diabetes mellitus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- 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)