S291W (p.Ser291Trp) variant of ADA (Adenosine deaminase)
S291W (p.Ser291Trp) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 published literature and structural context.
S291W (p.Ser291Trp) variant details
- p.Ser291Trp
- rs121908721
- ClinGen CA085502
- ClinVar RCV002513235
- ExAC rs121908721
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)