R377S (p.Arg377Ser) variant of GCK (Hexokinase-4)
R377S (p.Arg377Ser) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R377S (p.Arg377Ser) variant details
- p.Arg377Ser
- rs1471992838
- ClinGen CA367398819
- ClinVar RCV002325992
- ClinVar RCV003102308
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- REVEL 0.99
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.95
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)