R404Q (p.Arg404Gln) variant of RAG1 (P15918)
R404Q (p.Arg404Gln) 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 0.72 / 1. The record also includes population frequency data and structural context.
R404Q (p.Arg404Gln) variant details
- p.Arg404Gln
- rs750055861
- ClinGen CA5950114
- ClinVar RCV001385111
- ClinVar RCV001579945
- Pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.72
- MetaLR 0.57
- MetaSVM 0.19
- CADD 28.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available