R778Q (p.Arg778Gln) variant of RAG1 (P15918)
R778Q (p.Arg778Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R778Q (p.Arg778Gln) variant details
- p.Arg778Gln
- rs121918569
- ClinGen CA122916
- ClinVar RCV000014044
- ClinVar RCV000479659
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.82
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in CHIDG)
- UniProt: Pathogenic (in CHIDG)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: An immunodeficiency disease with RAG mutations and granulomas. (PMID 18463379)