F150S (p.Phe150Ser) variant of GCK (Hexokinase-4)
F150S (p.Phe150Ser) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
F150S (p.Phe150Ser) variant details
- p.Phe150Ser
- rs193922297
- ClinGen CA213784
- ClinVar RCV000029881
- ClinVar RCV000432293
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- CADD 31.00
- PolyPhen-2 1.00
- 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 the glucokinase gene of the fetus result in reduced birth weight. (PMID 9662401)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)