L10P (p.Leu10Pro) variant of TBX5 (T-box transcription factor TBX5)
L10P (p.Leu10Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- TOPMed rs1872009251
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available