G295R (p.Gly295Arg) variant of GCK (Hexokinase-4)
G295R (p.Gly295Arg) 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 0.79 / 1. The record also includes structural context.
G295R (p.Gly295Arg) variant details
- p.Gly295Arg
- rs1554334905
- ClinGen CA367400138
- ClinVar RCV003993703
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 0.42
- SIFT 0.01
- EVE 0.31
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available