I159V (p.Ile159Val) variant of GCK (Hexokinase-4)
I159V (p.Ile159Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic diabetes; not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I159V (p.Ile159Val) variant details
- p.Ile159Val
- rs1319364468
- ClinGen CA367401860
- cosmic curated COSV60786
- ClinVar RCV002227428
- Pathogenic/Likely pathogenic
- Monogenic diabetes; not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.55
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic diabetes; not provided; Maturity-onset diabetes of the)
- 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)