M235T (p.Met235Thr) variant of GCK (Hexokinase-4)
M235T (p.Met235Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M235T (p.Met235Thr) variant details
- p.Met235Thr
- rs193922323
- ClinGen CA213834
- ClinVar RCV000029911
- ClinVar RCV003556090
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.97
- CADD 26.30
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)