C220F (p.Cys220Phe) variant of GCK (Hexokinase-4)
C220F (p.Cys220Phe) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
C220F (p.Cys220Phe) variant details
- p.Cys220Phe
- rs193922316
- ClinGen CA367401193
- ClinVar RCV003494032
- ClinVar RCV003565693
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available