C382G (p.Cys382Gly) variant of GCK (Hexokinase-4)
C382G (p.Cys382Gly) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 population frequency data and structural context.
C382G (p.Cys382Gly) variant details
- p.Cys382Gly
- rs1554334613
- ClinGen CA367398753
- ClinVar RCV003330367
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available