M57K (p.Met57Lys) variant of GCK (Hexokinase-4)
M57K (p.Met57Lys) 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 0.74 / 1. The record also includes population frequency data and structural context.
M57K (p.Met57Lys) variant details
- p.Met57Lys
- rs2484539759
- ClinGen CA367403317
- ClinVar RCV003482698
- ClinVar RCV005402037
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.98
- AlphaMissense 0.92
- MetaLR 0.10
- MetaSVM -1.04
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available