E28K (p.Glu28Lys) variant of SOX9 (Transcription factor SOX-9)
E28K (p.Glu28Lys) in SOX9 (Transcription factor SOX-9) is a missense change. The record also includes structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- Ensembl rs2143236858
- Missense
- Structural context available