E73Q (p.Glu73Gln) variant of TBX5 (T-box transcription factor TBX5)
E73Q (p.Glu73Gln) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aortic valve disease 2. The record also includes structural context.
E73Q (p.Glu73Gln) variant details
- p.Glu73Gln
- rs2540475270
- ClinGen CA386863046
- ClinVar RCV003648289
- Likely pathogenic
- Aortic valve disease 2
- Missense
- ClinVar: Likely pathogenic (Aortic valve disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available