L386P (p.Leu386Pro) variant of GCK (Hexokinase-4)
L386P (p.Leu386Pro) 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.
L386P (p.Leu386Pro) variant details
- p.Leu386Pro
- rs193922268
- ClinGen CA213723
- ClinVar RCV000029843
- ClinVar RCV000517698
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)