R394Q (p.Arg394Gln) variant of RAG1 (P15918)
R394Q (p.Arg394Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R394Q (p.Arg394Gln) variant details
- p.Arg394Gln
- rs1850805503
- ClinGen CA380151740
- ClinVar RCV001070571
- ClinVar RCV002223987
- Likely pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.74
- MetaLR 0.57
- MetaSVM 0.19
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Likely pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available