E256Q (p.Glu256Gln) variant of GCK (Hexokinase-4)
E256Q (p.Glu256Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
E256Q (p.Glu256Gln) variant details
- p.Glu256Gln
- rs769268803
- ClinGen CA16618468
- ClinVar RCV000485821
- ExAC rs769268803
- Likely pathogenic
- Maturity-onset diabetes of the young type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2; not provided)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available