Q40* (p.Gln40Ter) variant of IKBKB (O14920)
Q40* (p.Gln40Ter) in IKBKB (O14920) 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.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- gnomAD 8-42288646-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.879
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available