E39* (p.Glu39Ter) variant of IKBKB (O14920)
E39* (p.Glu39Ter) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- gnomAD 8-42288643-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available