R737H (p.Arg737His) variant of RAG1 (P15918)
R737H (p.Arg737His) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inherited Immunodeficiency Diseases; Severe combined immunodeficiency, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R737H (p.Arg737His) variant details
- p.Arg737His
- rs104894286
- ClinGen CA122904
- ClinVar RCV000014032
- ClinVar RCV000014043
- Pathogenic
- Inherited Immunodeficiency Diseases; Severe combined immunodeficiency, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.88
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Combined immunodeficiency with skin granulomas)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: An immunodeficiency disease with RAG mutations and granulomas. (PMID 18463379)
- Cited in: Partial V(D)J recombination activity leads to Omenn syndrome. (PMID 9630231)