V40* (p.Val40Ter) variant of CTNNA1 (Catenin alpha-1)
V40* (p.Val40Ter) 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.
V40* (p.Val40Ter) variant details
- p.Val40Ter
- rs2532177853
- ClinGen CA2580072835
- ClinVar RCV002802215
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available