R156S (p.Arg156Ser) variant of ADA (Adenosine deaminase)
R156S (p.Arg156Ser) 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 0.85 / 1. The record also includes population frequency data and structural context.
R156S (p.Arg156Ser) variant details
- p.Arg156Ser
- rs121908735
- ClinVar RCV004586345
- Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Severe combined immunodeficiency disease)
- EBI: Likely pathogenic (in ADASCID)
- UniProt: Likely pathogenic (in ADASCID)
- Population evidence available
- Structural context available