R211C (p.Arg211Cys) variant of ADA (Adenosine deaminase)
R211C (p.Arg211Cys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R211C (p.Arg211Cys) variant details
- p.Arg211Cys
- rs121908740
- ClinGen CA115285
- ClinVar RCV000002043
- ClinVar RCV000059111
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Latino/Admixed American population (allele frequency 0.00069)
- Structural context available
- Cited in: Hot spot mutations in adenosine deaminase deficiency. (PMID 2166947)
- Cited in: Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. (PMID 8051429)