Y44* (p.Tyr44Ter) variant of SMARCB1 (Q12824)
Y44* (p.Tyr44Ter) in SMARCB1 (Q12824) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes experimental measurements and structural context.
Y44* (p.Tyr44Ter) variant details
- p.Tyr44Ter
- ESP rs370334151
- TOPMed rs370334151
- gnomAD rs370334151
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.217