I48L (p.Ile48Leu) variant of ETV6 (Transcription factor ETV6)

I48L (p.Ile48Leu) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

I48L (p.Ile48Leu) variant details