A83G (p.Ala83Gly) variant of ADA (Adenosine deaminase)
A83G (p.Ala83Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A83G (p.Ala83Gly) variant details
- p.Ala83Gly
- rs121908726
- ClinGen CA315442127
- ClinVar RCV001982146
- ESP rs121908726
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.89
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- 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 REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)