R53Q (p.Arg53Gln) variant of SLC2A2 (P11168)
R53Q (p.Arg53Gln) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fanconi-Bickel syndrome; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs145210664
- ClinGen CA2702747
- ClinVar RCV000490046
- ClinVar RCV000764477
- Conflicting interpretations
- not provided; Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.19
- CADD 19.40
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fanconi-Bickel syndrome; Type 2 diabetes mellitus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)