G74D (p.Gly74Asp) variant of ADA (Adenosine deaminase)
G74D (p.Gly74Asp) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
G74D (p.Gly74Asp) variant details
- p.Gly74Asp
- rs199422328
- ClinGen CA409121561
- ClinVar RCV003064605
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic (in ADASCID)
- UniProt: Likely pathogenic (in ADASCID)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)