R975W (p.Arg975Trp) variant of RAG1 (P15918)
R975W (p.Arg975Trp) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R975W (p.Arg975Trp) variant details
- p.Arg975Trp
- rs121918570
- ClinGen CA122919
- NCI-TCGA Cosmic COSV5502
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.72
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in CHIDG)
- UniProt: Pathogenic (in CHIDG)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: An immunodeficiency disease with RAG mutations and granulomas. (PMID 18463379)