F84S (p.Phe84Ser) variant of GCK (Hexokinase-4)
F84S (p.Phe84Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
F84S (p.Phe84Ser) variant details
- p.Phe84Ser
- rs2128822702
- ClinGen CA367402973
- ClinVar RCV002049532
- Ensembl rs2128822702
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available