F150L (p.Phe150Leu) variant of GCK (Hexokinase-4)
F150L (p.Phe150Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
F150L (p.Phe150Leu) variant details
- p.Phe150Leu
- rs193922299
- cosmic curated COSV60788
- ClinGen CA367401942
- ClinVar RCV003993702
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available