T49I (p.Thr49Ile) variant of GCK (Hexokinase-4)
T49I (p.Thr49Ile) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs193922286
- ClinGen CA367403399
- ClinVar RCV002047952
- Ensembl rs193922286
- Conflicting interpretations
- 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: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available