T110I (p.Thr110Ile) variant of SLC2A2 (P11168)
T110I (p.Thr110Ile) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T110I (p.Thr110Ile) variant details
- p.Thr110Ile
- rs5400
- ClinGen CA020012
- ClinVar RCV000118387
- ClinVar RCV000370969
- Benign
- not specified; not provided; Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.17
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not specified; not provided; Fanconi-Bickel syndrome)
- EBI: Benign (in dbSNP:rs5400)
- UniProt: Benign (in dbSNP:rs5400)
- Most common in the HGDP:MBUTI population (allele frequency 0.79)
- Structural context available
- Cited in: Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with noninsulin… (PMID 7593414)
- Cited in: A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. (PMID 8027028)