R404W (p.Arg404Trp) variant of RAG1 (P15918)
R404W (p.Arg404Trp) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe combined immunodeficiency disease; RAG1-related disorder; Combined immuno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R404W (p.Arg404Trp) variant details
- p.Arg404Trp
- rs764981110
- ClinGen CA5950113
- ClinVar RCV000788766
- ClinVar RCV000817183
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; RAG1-related disorder; Combined immuno
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.78
- MetaLR 0.53
- MetaSVM 0.20
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency disease; RAG1-related disorder;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available