V452L (p.Val452Leu) variant of GCK (Hexokinase-4)
V452L (p.Val452Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hyperinsulinism. The record also includes published literature and structural context.
V452L (p.Val452Leu) variant details
- p.Val452Leu
- rs2484491913
- ClinGen CA367396891
- ClinVar RCV003236379
- Likely pathogenic
- Familial hyperinsulinism
- Missense
- ClinVar: Likely pathogenic (Familial hyperinsulinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)