L50L (p.Leu50Leu) variant of IKBKB (O14920)
L50L (p.Leu50Leu) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 8-42272215-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available