C12W (p.Cys12Trp) variant of IKBKB (O14920)
C12W (p.Cys12Trp) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C12W (p.Cys12Trp) variant details
- p.Cys12Trp
- rs1807909696
- gnomAD 8-42272132-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 27.70
- Population evidence available
- Structural context available
- Literature evidence available