R776Q (p.Arg776Gln) variant of RAG1 (P15918)
R776Q (p.Arg776Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.83 / 1. The record also includes population frequency data and structural context.
R776Q (p.Arg776Gln) variant details
- p.Arg776Gln
- rs1254739284
- ClinGen CA380154478
- ClinVar RCV003096337
- ClinVar RCV003475325
- Pathogenic/Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.85
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available