I218N (p.Ile218Asn) variant of RAG2 (P55895)
I218N (p.Ile218Asn) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
I218N (p.Ile218Asn) variant details
- p.Ile218Asn
- rs2494794434
- ClinGen CA380142392
- ClinVar RCV002851216
- ClinVar RCV005045007
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available