E69* (p.Glu69Ter) variant of TBX5 (T-box transcription factor TBX5)
E69* (p.Glu69Ter) 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 0.43 / 1. The record also includes published literature and structural context.
E69* (p.Glu69Ter) variant details
- p.Glu69Ter
- rs104894377
- ClinGen CA254295
- NCI-TCGA Cosmic COSV5985
- ClinVar RCV000008456
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.56
- MetaLR 0.45
- MetaSVM -0.39
- PolyPhen-2 0.01
- SIFT 0.29
- EVE 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. (PMID 8988165)
- Cited in: Holt-Oram Syndrome. (PMID 20301290)