E54* (p.Glu54Ter) variant of RAG1 (P15918)
E54* (p.Glu54Ter) in RAG1 (P15918) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- rs2494750272
- ClinVar RCV004574679
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available