T206P (p.Thr206Pro) variant of GCK (Hexokinase-4)
T206P (p.Thr206Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic diabetes; not provided; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
T206P (p.Thr206Pro) variant details
- p.Thr206Pro
- rs587780346
- ClinGen CA152955
- ClinVar RCV000117132
- ClinVar RCV000497903
- Pathogenic/Likely pathogenic
- Monogenic diabetes; not provided; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Monogenic diabetes; not provided; Maturity-onset diabetes of the)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)