R282Q (p.Arg282Gln) variant of ADA (Adenosine deaminase)
R282Q (p.Arg282Gln) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R282Q (p.Arg282Gln) variant details
- p.Arg282Gln
- rs751635016
- ClinGen CA9871496
- ClinVar RCV000455891
- ClinVar RCV000668819
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.57
- CADD 33.00
- PolyPhen-2 0.14
- SIFT 0.26
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)