M202T (p.Met202Thr) variant of GCK (Hexokinase-4)
M202T (p.Met202Thr) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M202T (p.Met202Thr) variant details
- p.Met202Thr
- rs193922311
- ClinGen CA213810
- ClinVar RCV000029896
- ClinVar RCV000711779
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.92
- AlphaMissense 0.41
- MetaLR 0.85
- MetaSVM 0.74
- CADD 25.50
- PolyPhen-2 0.19
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)