G34* (p.Gly34Ter) variant of CHD2 (O14647)
G34* (p.Gly34Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G34* (p.Gly34Ter) variant details
- p.Gly34Ter
- gnomAD 15-92901343-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 18.60
- Population evidence available
- Structural context available
- Literature evidence available