A378G (p.Ala378Gly) variant of GCK (Hexokinase-4)
A378G (p.Ala378Gly) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A378G (p.Ala378Gly) variant details
- p.Ala378Gly
- rs193929374
- ClinGen CA367398802
- ClinVar RCV001248986
- ClinVar RCV001879746
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.90
- AlphaMissense 0.31
- MetaLR 0.94
- MetaSVM 1.12
- CADD 26.20
- PolyPhen-2 0.74
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)