I39T (p.Ile39Thr) variant of CXCR4 (C-X-C chemokine receptor type 4)
I39T (p.Ile39Thr) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs1684871649
- ClinGen CA348660090
- ClinVar RCV003628689
- TOPMed rs1684871649
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.45
- MetaLR 0.12
- MetaSVM -1.05
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available