G258S (p.Gly258Ser) variant of GCK (Hexokinase-4)
G258S (p.Gly258Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G258S (p.Gly258Ser) variant details
- p.Gly258Ser
- rs1583596378
- ClinGen CA367400589
- ClinVar RCV001175327
- ClinVar RCV001556494
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.99
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available