G216R (p.Gly216Arg) variant of ADA (Adenosine deaminase)
G216R (p.Gly216Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G216R (p.Gly216Arg) variant details
- p.Gly216Arg
- rs121908723
- ClinGen CA252008
- ClinVar RCV000002045
- ClinVar RCV000256171
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.94
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to… (PMID 1680289)
- Cited in: Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed… (PMID 8227344)