S30I (p.Ser30Ile) variant of TBX5 (T-box transcription factor TBX5)

S30I (p.Ser30Ile) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

S30I (p.Ser30Ile) variant details