L164F (p.Leu164Phe) variant of GCK (Hexokinase-4)
L164F (p.Leu164Phe) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. The record also includes structural context.
L164F (p.Leu164Phe) variant details
- p.Leu164Phe
- Ensembl rs2096278853
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- UniProt: Likely pathogenic (in MODY2 and PNDM1)
- Structural context available