R50S (p.Arg50Ser) variant of PAX5 (Paired box protein Pax-5)
R50S (p.Arg50Ser) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- ExAC rs777522556
- TOPMed rs777522556
- gnomAD rs777522556
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign