E13K (p.Glu13Lys) variant of ADA (Adenosine deaminase)
E13K (p.Glu13Lys) 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 record also includes published literature and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs2145338174
- ClinGen CA2573157145
- ClinVar RCV002039064
- Ensembl rs2145338174
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)