R841Q (p.Arg841Gln) variant of RAG1 (P15918)
R841Q (p.Arg841Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.87 / 1. The record also includes population frequency data and structural context.
R841Q (p.Arg841Gln) variant details
- p.Arg841Gln
- rs748296558
- ClinGen CA5950278
- ClinVar RCV003062360
- ClinVar RCV003130813
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in T-CMVA)
- UniProt: Pathogenic (in T-CMVA)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available