R282W (p.Arg282Trp) variant of ADA (Adenosine deaminase)
R282W (p.Arg282Trp) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
R282W (p.Arg282Trp) variant details
- p.Arg282Trp
- rs559798694
- ClinGen CA9871497
- ClinVar RCV000818070
- 1000Genomes rs559798694
- Conflicting interpretations
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.82
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)