M52L (p.Met52Leu) variant of ADA (Adenosine deaminase)
M52L (p.Met52Leu) 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.
M52L (p.Met52Leu) variant details
- p.Met52Leu
- rs2065409254
- ClinGen CA409121844
- ClinVar RCV001318050
- Ensembl rs2065409254
- 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)