G294R (p.Gly294Arg) variant of GCK (Hexokinase-4)
G294R (p.Gly294Arg) 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 0.78 / 1. The record also includes structural context.
G294R (p.Gly294Arg) variant details
- p.Gly294Arg
- rs2128820044
- ClinGen CA367400151
- ClinVar RCV003019186
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.82
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available