R716W (p.Arg716Trp) variant of RAG1 (P15918)
R716W (p.Arg716Trp) 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 due to partial RAG1 deficiency; Combined immunodeficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R716W (p.Arg716Trp) variant details
- p.Arg716Trp
- rs199776076
- ClinGen CA5950218
- ClinVar RCV001091953
- ClinVar RCV002557957
- Pathogenic/Likely pathogenic
- Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency due to partial RAG1 deficiency; Combin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available