G35S (p.Gly35Ser) variant of RAG2 (P55895)
G35S (p.Gly35Ser) in RAG2 (P55895) 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 record also includes experimental measurements and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- rs2494799990
- ClinGen CA380144633
- ClinVar RCV003785398
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.291