L20P (p.Leu20Pro) variant of GCK (Hexokinase-4)
L20P (p.Leu20Pro) 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. The record also includes published literature and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs2484540522
- ClinGen CA367403809
- ClinVar RCV003231847
- UniProt VAR 079432
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- 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)