D5H (p.Asp5His) variant of SOX9 (Transcription factor SOX-9)
D5H (p.Asp5His) 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.
D5H (p.Asp5His) variant details
- p.Asp5His
- TOPMed rs1908084450
- gnomAD rs1908084450
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available