T42R (p.Thr42Arg) variant of ADA (Adenosine deaminase)
T42R (p.Thr42Arg) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T42R (p.Thr42Arg) variant details
- p.Thr42Arg
- rs780318972
- ClinGen CA9871753
- ClinVar RCV001822375
- ClinVar RCV002542647
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.82
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)