R156L (p.Arg156Leu) variant of ADA (Adenosine deaminase)
R156L (p.Arg156Leu) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R156L (p.Arg156Leu) variant details
- p.Arg156Leu
- rs121908722
- ClinGen CA409121042
- ClinVar RCV000671721
- TOPMed rs121908722
- Pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.09
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)