E401* (p.Glu401Ter) variant of TBX3 (T-box transcription factor TBX3)
E401* (p.Glu401Ter) in TBX3 (T-box transcription factor TBX3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1.
E401* (p.Glu401Ter) variant details
- p.Glu401Ter
- rs1457604010
- ClinGen CA386869529
- ClinVar RCV003392985
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.15
- MetaLR 0.60
- MetaSVM -0.44
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.30
- EBI: Pathogenic
- UniProt: Pathogenic