E88* (p.Glu88Ter) variant of CHD8 (Q9HCK8)
E88* (p.Glu88Ter) in CHD8 (Q9HCK8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data.
E88* (p.Glu88Ter) variant details
- p.Glu88Ter
- 1000Genomes rs78640816
- ESP rs78640816
- ExAC rs78640816
- TOPMed rs78640816
- Benign
- Stop Gained
- EBI: Benign
- UniProt: Benign
- Population evidence available