W64* (p.Trp64Ter) variant of TBX5 (T-box transcription factor TBX5)
W64* (p.Trp64Ter) 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 0.82 / 1. The record also includes published literature and structural context.
W64* (p.Trp64Ter) variant details
- p.Trp64Ter
- rs1555226581
- ClinGen CA386863160
- ClinVar RCV001193147
- ClinVar RCV001268738
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 0.17
- SIFT 0.00
- EVE 0.63
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)