T49S (p.Thr49Ser) variant of GCK (Hexokinase-4)
T49S (p.Thr49Ser) 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 0.77 / 1. The record also includes structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- rs193922286
- ClinGen CA367403400
- ClinVar RCV003018951
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.21
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available