A73T (p.Ala73Thr) variant of ADA (Adenosine deaminase)
A73T (p.Ala73Thr) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A73T (p.Ala73Thr) variant details
- p.Ala73Thr
- rs921477673
- ClinGen CA315443459
- NCI-TCGA Cosmic COSV6574
- cosmic curated COSV65740
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.67
- CADD 25.70
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)