V33E (p.Val33Glu) variant of GCK (Hexokinase-4)
V33E (p.Val33Glu) 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 published literature and structural context.
V33E (p.Val33Glu) variant details
- p.Val33Glu
- rs1554335954
- ClinGen CA367403606
- ClinVar RCV000502611
- ClinVar RCV002383967
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.73
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)