F316V (p.Phe316Val) variant of GCK (Hexokinase-4)
F316V (p.Phe316Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.77 / 1. The record also includes published literature and structural context.
F316V (p.Phe316Val) variant details
- p.Phe316Val
- rs2128819989
- ClinGen CA367399935
- ClinVar RCV002475235
- ClinVar RCV005406475
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 0.70
- SIFT 0.00
- EVE 0.29
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)