Y57* (p.Tyr57Ter) variant of TGFB2 (P61812)
Y57* (p.Tyr57Ter) in TGFB2 (P61812) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y57* (p.Tyr57Ter) variant details
- p.Tyr57Ter
- rs897070997
- ClinGen CA344725444
- ClinVar RCV002037791
- Ensembl rs897070997
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)