R82W (p.Arg82Trp) variant of TBX5 (T-box transcription factor TBX5)
R82W (p.Arg82Trp) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
R82W (p.Arg82Trp) variant details
- p.Arg82Trp
- Ensembl rs1871673360
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available