E722K (p.Glu722Lys) variant of RAG1 (P15918)
E722K (p.Glu722Lys) 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.
E722K (p.Glu722Lys) variant details
- p.Glu722Lys
- rs28933392
- ClinGen CA122874
- ClinVar RCV000014021
- ClinVar RCV003234904
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.82
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in T(-)B(-)NK(+) SCID)
- UniProt: Pathogenic (in T(-)B(-)NK(+) SCID)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: RAG mutations in human B cell-negative SCID. (PMID 8810255)
- Cited in: Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (PMID 19912631)