S61* (p.Ser61Ter) variant of CHD8 (Q9HCK8)
S61* (p.Ser61Ter) in CHD8 (Q9HCK8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
S61* (p.Ser61Ter) variant details
- p.Ser61Ter
- ExAC rs753516769
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- Population evidence available