Y71* (p.Tyr71Ter) variant of TGFB2 (P61812)
Y71* (p.Tyr71Ter) in TGFB2 (P61812) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y71* (p.Tyr71Ter) variant details
- p.Tyr71Ter
- rs766024374
- ClinGen CA16603523
- ClinVar RCV000428017
- ExAC rs766024374
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available