L106V (p.Leu106Val) variant of ADA (Adenosine deaminase)
L106V (p.Leu106Val) 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.
L106V (p.Leu106Val) variant details
- p.Leu106Val
- rs267606635
- UniProt VAR 076955
- Ensembl rs267606635
- 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 (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Structural context available
- Cited in: An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact… (PMID 9361033)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)