R156P (p.Arg156Pro) variant of ADA (Adenosine deaminase)
R156P (p.Arg156Pro) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R156P (p.Arg156Pro) variant details
- p.Arg156Pro
- rs121908722
- ClinGen CA315441556
- ClinVar RCV001379577
- TOPMed rs121908722
- Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)