E19* (p.Glu19Ter) variant of CTNNA1 (Catenin alpha-1)
E19* (p.Glu19Ter) in CTNNA1 (Catenin alpha-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs1755161249
- ClinGen CA916082778
- ClinVar RCV001043751
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available