I189V (p.Ile189Val) variant of GCK (Hexokinase-4)
I189V (p.Ile189Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I189V (p.Ile189Val) variant details
- p.Ile189Val
- rs757978639
- ClinGen CA4239602
- ClinVar RCV003445466
- ClinVar RCV003479525
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.65
- CADD 19.10
- PolyPhen-2 0.96
- SIFT 0.09
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available