G44C (p.Gly44Cys) variant of GCK (Hexokinase-4)
G44C (p.Gly44Cys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; GCK-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G44C (p.Gly44Cys) variant details
- p.Gly44Cys
- rs267601516
- ClinGen CA367403443
- ClinVar RCV003230884
- ClinVar RCV003420621
- Conflicting interpretations
- not provided; GCK-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; GCK-related disorder; not specified)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)