M57I (p.Met57Ile) variant of GCK (Hexokinase-4)
M57I (p.Met57Ile) 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 0.91 / 1. The record also includes published literature and structural context.
M57I (p.Met57Ile) variant details
- p.Met57Ile
- rs1057520109
- ClinGen CA16618473
- ClinVar RCV000479407
- ClinVar RCV002402377
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.71
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)