M210T (p.Met210Thr) variant of GCK (Hexokinase-4)
M210T (p.Met210Thr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M210T (p.Met210Thr) variant details
- p.Met210Thr
- rs80356654
- ClinGen CA367401300
- ClinVar RCV000992058
- ClinVar RCV003117664
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. (PMID 9049484)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)