I130T (p.Ile130Thr) variant of GCK (Hexokinase-4)
I130T (p.Ile130Thr) 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 0.81 / 1. The record also includes population frequency data and structural context.
I130T (p.Ile130Thr) variant details
- p.Ile130Thr
- rs1036483919
- ClinGen CA157918200
- ClinVar RCV002281461
- ClinVar RCV003883194
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.93
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.80
- PolyPhen-2 0.64
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available