R282L (p.Arg282Leu) variant of ADA (Adenosine deaminase)
R282L (p.Arg282Leu) 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 disease; Severe combined immunodeficiency, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R282L (p.Arg282Leu) variant details
- p.Arg282Leu
- rs751635016
- ClinGen CA409119817
- cosmic curated COSV10059
- ClinVar RCV003475674
- Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.75
- CADD 35.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency disease; Severe combined immuno)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)