M251T (p.Met251Thr) variant of GCK (Hexokinase-4)
M251T (p.Met251Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. 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.
M251T (p.Met251Thr) variant details
- p.Met251Thr
- rs193922326
- ClinGen CA213840
- ClinVar RCV000029914
- Ensembl rs193922326
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.96
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)