T49N (p.Thr49Asn) variant of GCK (Hexokinase-4)
T49N (p.Thr49Asn) 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 0.77 / 1. The record also includes published literature and structural context.
T49N (p.Thr49Asn) variant details
- p.Thr49Asn
- rs193922286
- ClinGen CA213765
- ClinVar RCV000029867
- ClinVar RCV003325948
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.21
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.35
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)