R81K (p.Arg81Lys) variant of TBX5 (T-box transcription factor TBX5)
R81K (p.Arg81Lys) 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 Aortic valve disease 2. The record also includes structural context.
R81K (p.Arg81Lys) variant details
- p.Arg81Lys
- rs2540475204
- ClinGen CA386862959
- ClinVar RCV003648283
- Uncertain significance
- Aortic valve disease 2
- Missense
- ClinVar: Uncertain significance (Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available