P126Q (p.Pro126Gln) variant of ADA (Adenosine deaminase)
P126Q (p.Pro126Gln) 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 disease; Severe combined immunodeficiency, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P126Q (p.Pro126Gln) variant details
- p.Pro126Gln
- rs1233957241
- ClinGen CA409121223
- ClinVar RCV001044838
- ClinVar RCV003226425
- Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.90
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency disease; Severe combined immuno)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)