F128* (p.Phe128Ter) variant of IL12B (Interleukin-12 subunit beta)
F128* (p.Phe128Ter) in IL12B (Interleukin-12 subunit beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
F128* (p.Phe128Ter) variant details
- p.Phe128Ter
- rs867933096
- ClinGen CA129828180
- ClinVar RCV003747830
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available