I189M (p.Ile189Met) variant of GCK (Hexokinase-4)
I189M (p.Ile189Met) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I189M (p.Ile189Met) variant details
- p.Ile189Met
- rs2128821587
- ClinGen CA367401545
- ClinVar RCV003445462
- ClinVar RCV005414293
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.84
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)