M443I (p.Met443Ile) variant of RAG2 (P55895)
M443I (p.Met443Ile) in RAG2 (P55895) 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 0.84 / 1. The record also includes population frequency data and structural context.
M443I (p.Met443Ile) variant details
- p.Met443Ile
- rs773710101
- ClinGen CA380140607
- ClinVar RCV003815428
- cosmic curated COSV57559
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.89
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available