I50T (p.Ile50Thr) variant of ADA (Adenosine deaminase)
I50T (p.Ile50Thr) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I50T (p.Ile50Thr) variant details
- p.Ile50Thr
- rs1057460440
- ClinGen CA315443567
- ClinVar RCV001886375
- TOPMed rs1057460440
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.86
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)