W32C (p.Trp32Cys) variant of IKBKB (O14920)
W32C (p.Trp32Cys) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
W32C (p.Trp32Cys) variant details
- p.Trp32Cys
- rs1807918890
- gnomAD 8-42272194-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available