E40* (p.Glu40Ter) variant of CHD2 (O14647)
E40* (p.Glu40Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- gnomAD 15-92924376-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available