Q9* (p.Gln9Ter) variant of CHD2 (O14647)
Q9* (p.Gln9Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs2052591236
- gnomAD 15-92904920-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available