E74* (p.Glu74Ter) variant of PCDH15 (Protocadherin-15)

E74* (p.Glu74Ter) in PCDH15 (Protocadherin-15) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.

E74* (p.Glu74Ter) variant details