I293T (p.Ile293Thr) variant of GCK (Hexokinase-4)
I293T (p.Ile293Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I293T (p.Ile293Thr) variant details
- p.Ile293Thr
- rs2128820046
- ClinGen CA367400161
- ClinVar RCV001756594
- ClinVar RCV002285492
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- CADD 26.20
- PolyPhen-2 0.87
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)