L18Q (p.Leu18Gln) variant of SOX9 (Transcription factor SOX-9)
L18Q (p.Leu18Gln) 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.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- ExAC rs770996719
- TOPMed rs770996719
- gnomAD rs770996719
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available