A50S (p.Ala50Ser) variant of SETD2 (Q9BYW2)
A50S (p.Ala50Ser) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- 1000Genomes rs191985301
- TOPMed rs191985301
- gnomAD rs191985301
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available