R34Q (p.Arg34Gln) variant of RAG1 (P15918)
R34Q (p.Arg34Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to partial RAG1 deficiency; Histiocytic medullary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs377307948
- ClinGen CA5949905
- ClinVar RCV000645682
- ClinVar RCV002507103
- Uncertain significance
- Combined immunodeficiency due to partial RAG1 deficiency; Histiocytic medullary
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.44
- MetaLR 0.33
- MetaSVM -0.28
- CADD 24.00
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency due to partial RAG1 deficiency; Histio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available