Y84C (p.Tyr84Cys) variant of ADA (Adenosine deaminase)
Y84C (p.Tyr84Cys) 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 provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- rs772021681
- ClinGen CA9871720
- ClinVar RCV001998374
- ClinVar RCV005865532
- Uncertain significance
- not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.90
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Severe combined immunodeficiency, autosomal recess)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)