F316Y (p.Phe316Tyr) variant of GCK (Hexokinase-4)
F316Y (p.Phe316Tyr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele 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 0.86 / 1. The record also includes published literature and structural context.
F316Y (p.Phe316Tyr) variant details
- p.Phe316Tyr
- rs193922339
- ClinGen CA213868
- ClinVar RCV000029930
- ClinVar RCV002463616
- Likely pathogenic/Likely risk allele
- Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.83
- MetaLR 0.95
- MetaSVM 1.04
- PolyPhen-2 0.02
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic/Likely risk allele (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)