E52* (p.Glu52Ter) variant of TBX5 (T-box transcription factor TBX5)
E52* (p.Glu52Ter) in TBX5 (T-box transcription factor TBX5) 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 0.62 / 1. The record also includes structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- rs1208004863
- ClinGen CA386863317
- ClinVar RCV001035895
- gnomAD rs1208004863
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.56
- MetaLR 0.70
- MetaSVM 0.46
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.28
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available