M381T (p.Met381Thr) variant of GCK (Hexokinase-4)
M381T (p.Met381Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
M381T (p.Met381Thr) variant details
- p.Met381Thr
- rs193922266
- ClinGen CA367398764
- ClinVar RCV003318528
- ClinVar RCV005102881
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.93
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.02
- CADD 29.30
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available