Y119* (p.Tyr119Ter) variant of SFTPB (P07988)
Y119* (p.Tyr119Ter) in SFTPB (P07988) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
Y119* (p.Tyr119Ter) variant details
- p.Tyr119Ter
- ESP rs368293273
- ExAC rs368293273
- TOPMed rs368293273
- gnomAD rs368293273
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available