W13* (p.Trp13Ter) variant of CTNNA1 (Catenin alpha-1)
W13* (p.Trp13Ter) in CTNNA1 (Catenin alpha-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W13* (p.Trp13Ter) variant details
- p.Trp13Ter
- rs2532170453
- ClinGen CA361477103
- ClinVar RCV003455964
- ClinVar RCV006382011
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)