R76Q (p.Arg76Gln) variant of ADA (Adenosine deaminase)
R76Q (p.Arg76Gln) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- rs374983783
- ClinGen CA9871723
- ClinVar RCV001324720
- ESP rs374983783
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance (in ADASCID)
- UniProt: Uncertain significance (in ADASCID)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)