W58S (p.Trp58Ser) variant of IKBKB (O14920)
W58S (p.Trp58Ser) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
W58S (p.Trp58Ser) variant details
- p.Trp58Ser
- gnomAD 8-42272304-G-GCTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 3.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available