R559W (p.Arg559Trp) variant of RAG1 (P15918)
R559W (p.Arg559Trp) in RAG1 (P15918) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
R559W (p.Arg559Trp) variant details
- p.Arg559Trp
- gnomAD rs1850817996
- Pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.93
- CADD 25.80
- ClinVar: Pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- UniProt: Pathogenic (in T(-)B(-)NK(+) SCID and OS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available