I19M (p.Ile19Met) variant of GCK (Hexokinase-4)
I19M (p.Ile19Met) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- rs193922308
- ClinGen CA213804
- ClinVar RCV000029893
- TOPMed rs193922308
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.17
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.21
- EVE 0.17
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)