A30T (p.Ala30Thr) variant of SOX2 (Transcription factor SOX-2)
A30T (p.Ala30Thr) in SOX2 (Transcription factor SOX-2) is a missense change. The record also includes experimental measurements and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- TOPMed rs914783082
- Missense
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.508