T11A (p.Thr11Ala) variant of SOX9 (Transcription factor SOX-9)
T11A (p.Thr11Ala) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- cosmic curated COSV55423
- TOPMed rs1287145712
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available