R447P (p.Arg447Pro) variant of GCK (Hexokinase-4)
R447P (p.Arg447Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Maturity-onset diabetes of the young type 2; Permanent neonatal di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R447P (p.Arg447Pro) variant details
- p.Arg447Pro
- rs1131691416
- ClinGen CA367396939
- ClinVar RCV000992046
- ClinVar RCV002290505
- Likely pathogenic
- not provided; Maturity-onset diabetes of the young type 2; Permanent neonatal di
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.40
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.16
- ClinVar: Likely pathogenic (not provided; Maturity-onset diabetes of the young type 2; Perma)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)