Q121* (p.Gln121Ter) variant of CHD8 (Q9HCK8)
Q121* (p.Gln121Ter) in CHD8 (Q9HCK8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data.
Q121* (p.Gln121Ter) variant details
- p.Gln121Ter
- Ensembl rs1555318658
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.895
- CADD 37.00
- Population evidence available