R47P (p.Arg47Pro) variant of CARD11 (Q9BXL7)
R47P (p.Arg47Pro) in CARD11 (Q9BXL7) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R47P (p.Arg47Pro) variant details
- p.Arg47Pro
- ExAC rs765680532
- gnomAD rs765680532
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available