K56T (p.Lys56Thr) variant of GCK (Hexokinase-4)
K56T (p.Lys56Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
K56T (p.Lys56Thr) variant details
- p.Lys56Thr
- rs2096283096
- ClinGen CA367403326
- ClinVar RCV002475236
- ClinVar RCV003479431
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.12
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.14
- EVE 0.18
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available