F330V (p.Phe330Val) variant of GCK (Hexokinase-4)
F330V (p.Phe330Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F330V (p.Phe330Val) variant details
- p.Phe330Val
- ExAC rs763586339
- TOPMed rs763586339
- gnomAD rs763586339
- Uncertain significance
- Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2; Permanent neonatal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available