M251V (p.Met251Val) variant of GCK (Hexokinase-4)
M251V (p.Met251Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M251V (p.Met251Val) variant details
- p.Met251Val
- rs2128820620
- ClinGen CA367400634
- ClinVar RCV002225198
- ClinVar RCV005095775
- Pathogenic
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.59
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.18
- EVE 0.14
- ClinVar: Pathogenic (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)