F260S (p.Phe260Ser) variant of GCK (Hexokinase-4)
F260S (p.Phe260Ser) 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; Maturity-onset diabetes of the young type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
F260S (p.Phe260Ser) variant details
- p.Phe260Ser
- rs193922330
- ClinGen CA213852
- ClinVar RCV000029920
- ClinVar RCV002463611
- Likely pathogenic
- Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young; Maturity-onset diabetes of)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)