T228R (p.Thr228Arg) variant of GCK (Hexokinase-4)
T228R (p.Thr228Arg) 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 0.90 / 1. The record also includes population frequency data and structural context.
T228R (p.Thr228Arg) variant details
- p.Thr228Arg
- rs80356655
- ClinGen CA367400787
- ClinVar RCV003883456
- ClinVar RCV005101448
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2 and PNDM1)
- UniProt: Pathogenic (in MODY2 and PNDM1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available