E380K (p.Glu380Lys) variant of TBX3 (T-box transcription factor TBX3)
E380K (p.Glu380Lys) in TBX3 (T-box transcription factor TBX3) 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 0.41 / 1. The record also includes population frequency data.
E380K (p.Glu380Lys) variant details
- p.Glu380Lys
- rs865915137
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57470
- TOPMed rs865915137
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.22
- MetaLR 0.23
- MetaSVM -0.43
- PolyPhen-2 0.89
- SIFT 0.01
- MutPred 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available