R101W (p.Arg101Trp) variant of ADA (Adenosine deaminase)
R101W (p.Arg101Trp) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R101W (p.Arg101Trp) variant details
- p.Arg101Trp
- rs121908717
- cosmic curated COSV10971
- UniProt VAR 002217
- TOPMed rs121908717
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. (PMID 3182793)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)