R101G (p.Arg101Gly) variant of ADA (Adenosine deaminase)
R101G (p.Arg101Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R101G (p.Arg101Gly) variant details
- p.Arg101Gly
- rs121908717
- ClinGen CA409121387
- ClinVar RCV001246793
- TOPMed rs121908717
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.90
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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 1.8e-06)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)