P104R (p.Pro104Arg) variant of ADA (Adenosine deaminase)
P104R (p.Pro104Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
P104R (p.Pro104Arg) variant details
- p.Pro104Arg
- TOPMed rs1452483770
- gnomAD rs1452483770
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available