Q38P (p.Gln38Pro) variant of GCK (Hexokinase-4)
Q38P (p.Gln38Pro) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q38P (p.Gln38Pro) variant details
- p.Gln38Pro
- rs1064794268
- ClinGen CA16618475
- ClinVar RCV000480480
- ClinVar RCV000754804
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.89
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.07
- CADD 24.40
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)