I54M (p.Ile54Met) variant of TBX5 (T-box transcription factor TBX5)

I54M (p.Ile54Met) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in HOS. The record also includes structural context.

I54M (p.Ile54Met) variant details