M1R (p.Met1Arg) variant of ADA (Adenosine deaminase)
M1R (p.Met1Arg) 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 disease. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1600956379
- ClinGen CA409122633
- ClinVar RCV003498965
- Uncertain significance
- Severe combined immunodeficiency disease
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)