S12W (p.Ser12Trp) variant of EPAS1 (Q99814)
S12W (p.Ser12Trp) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
S12W (p.Ser12Trp) variant details
- p.Ser12Trp
- ESP rs376889179
- ExAC rs376889179
- TOPMed rs376889179
- gnomAD rs376889179
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available