L50W (p.Leu50Trp) variant of IKBKB (O14920)
L50W (p.Leu50Trp) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L50W (p.Leu50Trp) variant details
- p.Leu50Trp
- rs767985812
- gnomAD 8-42272222-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 9.32
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available