E40* (p.Glu40Ter) variant of PPARGC1A (Q9UBK2)

E40* (p.Glu40Ter) in PPARGC1A (Q9UBK2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E40* (p.Glu40Ter) variant details