R46M (p.Arg46Met) variant of GCK (Hexokinase-4)
R46M (p.Arg46Met) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R46M (p.Arg46Met) variant details
- p.Arg46Met
- rs1064796993
- ClinGen CA16618474
- ClinVar RCV000479996
- ClinVar RCV002285338
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.74
- CADD 16.10
- PolyPhen-2 0.50
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)