V374M (p.Val374Met) variant of GCK (Hexokinase-4)
V374M (p.Val374Met) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V374M (p.Val374Met) variant details
- p.Val374Met
- rs1415041911
- ClinGen CA367398877
- ClinVar RCV000517245
- ClinVar RCV003403213
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)