R778W (p.Arg778Trp) variant of RAG1 (P15918)
R778W (p.Arg778Trp) 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 0.74 / 1. The record also includes population frequency data and structural context.
R778W (p.Arg778Trp) variant details
- p.Arg778Trp
- rs752020152
- ClinGen CA380154489
- ClinVar RCV000988529
- ClinVar RCV001389161
- Pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.92
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic (in CHIDG)
- UniProt: Pathogenic (in CHIDG)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available