S18W (p.Ser18Trp) variant of SOX2 (Transcription factor SOX-2)
S18W (p.Ser18Trp) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
S18W (p.Ser18Trp) variant details
- p.Ser18Trp
- ExAC rs750091101
- TOPMed rs750091101
- gnomAD rs750091101
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.004