H156D (p.His156Asp) variant of GCK (Hexokinase-4)
H156D (p.His156Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
H156D (p.His156Asp) variant details
- p.His156Asp
- rs1562718043
- ClinGen CA367401894
- ClinVar RCV004527577
- ClinVar RCV005335978
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)