V277E (p.Val277Glu) variant of GCK (Hexokinase-4)
V277E (p.Val277Glu) 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 0.83 / 1. The record also includes structural context.
V277E (p.Val277Glu) variant details
- p.Val277Glu
- rs1554335093
- ClinGen CA367400469
- ClinVar RCV002305212
- ClinVar RCV006605376
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.85
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.04
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available