L15* (p.Leu15Ter) variant of CHD2 (O14647)
L15* (p.Leu15Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L15* (p.Leu15Ter) variant details
- p.Leu15Ter
- gnomAD 15-92901368-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 18.30
- Population evidence available
- Structural context available
- Literature evidence available