R149L (p.Arg149Leu) variant of ADA (Adenosine deaminase)
R149L (p.Arg149Leu) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R149L (p.Arg149Leu) variant details
- p.Arg149Leu
- rs121908737
- ClinGen CA409121085
- ClinVar RCV001140807
- TOPMed rs121908737
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.96
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)