R474H (p.Arg474His) variant of RAG1 (P15918)
R474H (p.Arg474His) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. 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.
R474H (p.Arg474His) variant details
- p.Arg474His
- rs199474686
- ClinGen CA219809
- NCI-TCGA Cosmic COSV5502
- ClinVar RCV000059565
- Pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.77
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.17)
- 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)