R394S (p.Arg394Ser) variant of GCK (Hexokinase-4)
R394S (p.Arg394Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar 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 0.77 / 1. The record also includes population frequency data and structural context.
R394S (p.Arg394Ser) variant details
- p.Arg394Ser
- TOPMed rs1364766762
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.77
- CADD 25.60
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Likely pathogenic (Monogenic diabetes)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available