L65P (p.Leu65Pro) variant of TBX5 (T-box transcription factor TBX5)
L65P (p.Leu65Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
L65P (p.Leu65Pro) variant details
- p.Leu65Pro
- rs2540475317
- ClinGen CA386863148
- ClinVar RCV003235836
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available