G20V (p.Gly20Val) variant of SOX9 (Transcription factor SOX-9)
G20V (p.Gly20Val) 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.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD rs1276160255
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available