R396H (p.Arg396His) variant of RAG1 (P15918)
R396H (p.Arg396His) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R396H (p.Arg396His) variant details
- p.Arg396His
- rs104894291
- ClinGen CA122895
- ClinVar RCV000014028
- ClinVar RCV000688686
- Pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.79
- AlphaMissense 0.95
- MetaLR 0.62
- MetaSVM 0.30
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (PMID 19912631)
- Cited in: Partial V(D)J recombination activity leads to Omenn syndrome. (PMID 9630231)