F39L (p.Phe39Leu) variant of SMARCB1 (Q12824)
F39L (p.Phe39Leu) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes experimental measurements and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- ExAC rs757517233
- TOPMed rs757517233
- gnomAD rs757517233
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.797