R81S (p.Arg81Ser) variant of ADA (Adenosine deaminase)
R81S (p.Arg81Ser) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The record also includes structural context.
R81S (p.Arg81Ser) variant details
- p.Arg81Ser
- TOPMed rs2065384739
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- UniProt: Uncertain significance
- Structural context available