G20R (p.Gly20Arg) variant of ADA (Adenosine deaminase)
G20R (p.Gly20Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega. 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.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs121908724
- ClinGen CA266020
- ClinVar RCV000059109
- ClinVar RCV000494092
- Pathogenic/Likely pathogenic
- not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe combined immunodeficiency, autosomal recess)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe… (PMID 8299233)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)