M1L (p.Met1Leu) variant of GCK (Hexokinase-4)
M1L (p.Met1Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hyperinsulinemic hypoglycemia, familial, 3. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2484626558
- ClinGen CA367358357
- ClinVar RCV003230246
- Likely benign
- Hyperinsulinemic hypoglycemia, familial, 3
- Missense
- ClinVar: Likely benign (Hyperinsulinemic hypoglycemia, familial, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)