R39I (p.Arg39Ile) variant of RAG2 (P55895)
R39I (p.Arg39Ile) in RAG2 (P55895) 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 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R39I (p.Arg39Ile) variant details
- p.Arg39Ile
- rs2133316269
- ClinGen CA380144570
- ClinVar RCV001918584
- Ensembl rs2133316269
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score 0.014