R394W (p.Arg394Trp) variant of RAG1 (P15918)
R394W (p.Arg394Trp) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R394W (p.Arg394Trp) variant details
- p.Arg394Trp
- rs1590702874
- ClinGen CA380151733
- ClinVar RCV000817355
- ClinVar RCV001575075
- Pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.80
- MetaLR 0.54
- MetaSVM 0.15
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available