L454Q (p.Leu454Gln) variant of RAG1 (P15918)
L454Q (p.Leu454Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.68 / 1. The record also includes published literature and structural context.
L454Q (p.Leu454Gln) variant details
- p.Leu454Gln
- rs199474677
- ClinGen CA219803
- ClinVar RCV000059563
- ClinVar RCV000819860
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Structural context available
- Cited in: Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. (PMID 21624848)
- Cited in: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PMID 10606976)