S4* (p.Ser4Ter) variant of IKBKB (O14920)
S4* (p.Ser4Ter) in IKBKB (O14920) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- rs2487009371
- ClinGen CA371088118
- ClinVar RCV003416953
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available