S12* (p.Ser12Ter) variant of EPAS1 (Q99814)
S12* (p.Ser12Ter) in EPAS1 (Q99814) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- ESP rs376889179
- ExAC rs376889179
- TOPMed rs376889179
- gnomAD rs376889179
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available