R211S (p.Arg211Ser) variant of ADA (Adenosine deaminase)
R211S (p.Arg211Ser) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R211S (p.Arg211Ser) variant details
- p.Arg211Ser
- rs121908740
- ClinGen CA409120466
- ClinVar RCV003048197
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- MutPred 0.87
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic (in ADASCID)
- UniProt: Likely pathogenic (in ADASCID)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)