R250C (p.Arg250Cys) variant of GCK (Hexokinase-4)
R250C (p.Arg250Cys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R250C (p.Arg250Cys) variant details
- p.Arg250Cys
- rs1057524904
- ClinGen CA16609268
- cosmic curated COSV60788
- ClinVar RCV000445484
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)