F423S (p.Phe423Ser) variant of GCK (Hexokinase-4)
F423S (p.Phe423Ser) 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 0.69 / 1. The record also includes structural context.
F423S (p.Phe423Ser) variant details
- p.Phe423Ser
- rs193922273
- ClinGen CA367397256
- ClinVar RCV000516995
- ClinVar RCV004527383
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.57
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.14
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available