L152P (p.Leu152Pro) variant of ADA (Adenosine deaminase)
L152P (p.Leu152Pro) 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.
L152P (p.Leu152Pro) variant details
- p.Leu152Pro
- rs1568845361
- ClinGen CA409121070
- ClinVar RCV000766119
- ClinVar RCV003603076
- 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: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)