R55* (p.Arg55Ter) variant of IKBKB (O14920)
R55* (p.Arg55Ter) in IKBKB (O14920) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R55* (p.Arg55Ter) variant details
- p.Arg55Ter
- rs1190950389
- ClinGen CA371092552
- ClinVar RCV001903991
- gnomAD rs1190950389
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available