R396C (p.Arg396Cys) variant of RAG1 (P15918)
R396C (p.Arg396Cys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R396C (p.Arg396Cys) variant details
- p.Arg396Cys
- rs104894289
- ClinGen CA122889
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV000014026
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.80
- MetaLR 0.58
- MetaSVM 0.22
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PMID 10606976)
- Cited in: Partial V(D)J recombination activity leads to Omenn syndrome. (PMID 9630231)