E81* (p.Glu81Ter) variant of CHD8 (Q9HCK8)
E81* (p.Glu81Ter) in CHD8 (Q9HCK8) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.
E81* (p.Glu81Ter) variant details
- p.Glu81Ter
- rs1555318703
- Ensembl rs1555318703
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.