R156C (p.Arg156Cys) variant of ADA (Adenosine deaminase)
R156C (p.Arg156Cys) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Severe combined immunodeficiency disease; Severe combined immunode. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R156C (p.Arg156Cys) variant details
- p.Arg156Cys
- rs121908735
- ClinGen CA252011
- ClinVar RCV000002047
- ClinVar RCV000780816
- Pathogenic
- not provided; Severe combined immunodeficiency disease; Severe combined immunode
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- CADD 33.00
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Pathogenic (not provided; Severe combined immunodeficiency disease; Severe c)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to… (PMID 1284479)
- Cited in: Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient… (PMID 498598)