Q18K (p.Gln18Lys) variant of GCK (Hexokinase-4)
Q18K (p.Gln18Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- rs1300199281
- TOPMed rs1300199281
- gnomAD rs1300199281
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.64
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.96
- CADD 17.40
- PolyPhen-2 0.98
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available