H70Q (p.His70Gln) variant of IKBKB (O14920)
H70Q (p.His70Gln) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H70Q (p.His70Gln) variant details
- p.His70Gln
- gnomAD 8-42272297-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.24
- Population evidence available
- Structural context available
- Literature evidence available