I19N (p.Ile19Asn) variant of GCK (Hexokinase-4)
I19N (p.Ile19Asn) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I19N (p.Ile19Asn) variant details
- p.Ile19Asn
- rs2484540549
- cosmic curated COSV10606
- ClinGen CA367403826
- ClinVar RCV003037224
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.86
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)