P104L (p.Pro104Leu) variant of ADA (Adenosine deaminase)
P104L (p.Pro104Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P104L (p.Pro104Leu) variant details
- p.Pro104Leu
- rs1452483770
- ClinGen CA409121365
- ClinVar RCV000685056
- ClinVar RCV003155284
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)