R975Q (p.Arg975Gln) variant of RAG1 (P15918)
R975Q (p.Arg975Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R975Q (p.Arg975Gln) variant details
- p.Arg975Gln
- rs150739647
- ClinGen CA219836
- ClinVar RCV000059574
- ClinVar RCV000780682
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.76
- CADD 29.20
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00013)
- Structural context available
- Cited in: V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical… (PMID 11133745)
- Cited in: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PMID 10606976)