I61T (p.Ile61Thr) variant of SLC2A2 (P11168)
I61T (p.Ile61Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I61T (p.Ile61Thr) variant details
- p.Ile61Thr
- TOPMed rs977284195
- gnomAD rs977284195
- Uncertain significance
- Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.28
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available