G239S (p.Gly239Ser) variant of ADA (Adenosine deaminase)
G239S (p.Gly239Ser) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G239S (p.Gly239Ser) variant details
- p.Gly239Ser
- rs777820729
- ClinGen CA9871547
- ClinVar RCV000378500
- ClinVar RCV003230481
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)