S39* (p.Ser39Ter) variant of CHD2 (O14647)
S39* (p.Ser39Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S39* (p.Ser39Ter) variant details
- p.Ser39Ter
- gnomAD 15-92901353-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available