S113* (p.Ser113Ter) variant of CHD8 (Q9HCK8)
S113* (p.Ser113Ter) in CHD8 (Q9HCK8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data.
S113* (p.Ser113Ter) variant details
- p.Ser113Ter
- 1000Genomes rs530700201
- ExAC rs530700201
- TOPMed rs530700201
- gnomAD rs530700201
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available