T60I (p.Thr60Ile) variant of GCK (Hexokinase-4)
T60I (p.Thr60Ile) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T60I (p.Thr60Ile) variant details
- p.Thr60Ile
- rs747783371
- ClinGen CA4239709
- ClinVar RCV001844458
- ClinVar RCV002406905
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.98
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.04
- CADD 27.00
- PolyPhen-2 0.15
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)