G69* (p.Gly69Ter) variant of TBX20 (T-box transcription factor TBX20)
G69* (p.Gly69Ter) in TBX20 (T-box transcription factor TBX20) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
G69* (p.Gly69Ter) variant details
- p.Gly69Ter
- rs1790276091
- ClinGen CA367265264
- ClinVar RCV002421958
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.26
- MetaLR 0.43
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.33
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available