R561C (p.Arg561Cys) variant of RAG1 (P15918)
R561C (p.Arg561Cys) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R561C (p.Arg561Cys) variant details
- p.Arg561Cys
- rs104894285
- ClinGen CA122901
- ClinVar RCV000014030
- ClinVar RCV000014031
- Pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.90
- CADD 26.70
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe… (PMID 11313270)
- Cited in: Partial V(D)J recombination activity leads to Omenn syndrome. (PMID 9630231)