R76W (p.Arg76Trp) variant of ADA (Adenosine deaminase)
R76W (p.Arg76Trp) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Severe combined immunodeficiency, autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- rs121908736
- ClinGen CA115279
- ClinVar RCV000002039
- ClinVar RCV000059096
- Uncertain significance
- not specified; not provided; Severe combined immunodeficiency, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.95
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Severe combined immunodeficiency, a)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Hot spot mutations in adenosine deaminase deficiency. (PMID 2166947)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)