A83T (p.Ala83Thr) variant of ADA (Adenosine deaminase)
A83T (p.Ala83Thr) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- rs776103734
- ClinGen CA9871721
- NCI-TCGA Cosmic COSV6574
- cosmic curated COSV65741
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 0.82
- SIFT 0.03
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic (in ADASCID)
- UniProt: Likely pathogenic (in ADASCID)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)