R474C (p.Arg474Cys) variant of RAG1 (P15918)
R474C (p.Arg474Cys) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive RAG1-related disorders; Combined immunodeficiency with skin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R474C (p.Arg474Cys) variant details
- p.Arg474Cys
- rs199474678
- ClinGen CA219806
- ClinVar RCV000059564
- ClinVar RCV001235005
- Pathogenic
- Autosomal recessive RAG1-related disorders; Combined immunodeficiency with skin
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.73
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive RAG1-related disorders; Combined immunodefic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Highly variable clinical phenotypes of hypomorphic RAG1 mutations. (PMID 20956421)
- Cited in: Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. (PMID 28216420)