R314W (p.Arg314Trp) variant of RAG1 (P15918)
R314W (p.Arg314Trp) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R314W (p.Arg314Trp) variant details
- p.Arg314Trp
- rs121918568
- ClinGen CA122913
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV000014042
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.88
- MetaLR 0.68
- MetaSVM 0.52
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in CHIDG)
- UniProt: Pathogenic (in CHIDG)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: An immunodeficiency disease with RAG mutations and granulomas. (PMID 18463379)