R101Q (p.Arg101Gln) variant of ADA (Adenosine deaminase)
R101Q (p.Arg101Gln) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Severe combined immunodeficiency disease; Severe combined immunode. 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.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- rs121908714
- ClinGen CA251998
- cosmic curated COSV65740
- ClinVar RCV000002033
- Pathogenic
- not provided; Severe combined immunodeficiency disease; Severe combined immunode
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Severe combined immunodeficiency disease; Severe c)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. (PMID 3839802)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)