R211H (p.Arg211His) variant of ADA (Adenosine deaminase)
R211H (p.Arg211His) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R211H (p.Arg211His) variant details
- p.Arg211His
- rs121908716
- ClinGen CA252000
- ClinVar RCV000002034
- ClinVar RCV000756972
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: 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 0.00029)
- Structural context available
- Cited in: Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. (PMID 3182793)
- Cited in: Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. (PMID 3475710)