H15L (p.His15Leu) variant of ADA (Adenosine deaminase)
H15L (p.His15Leu) 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.
H15L (p.His15Leu) variant details
- p.His15Leu
- rs1209280928
- ClinGen CA409122529
- ClinVar RCV000790400
- gnomAD rs1209280928
- 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)