V226L (p.Val226Leu) variant of GCK (Hexokinase-4)
V226L (p.Val226Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V226L (p.Val226Leu) variant details
- p.Val226Leu
- rs148311934
- ClinGen CA367401125
- ClinVar RCV003494029
- ExAC rs148311934
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.67
- CADD 23.20
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available