M1V (p.Met1Val) variant of ADA (Adenosine deaminase)
M1V (p.Met1Val) 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 record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1363043396
- ClinGen CA409122637
- ClinVar RCV001378051
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)