R841W (p.Arg841Trp) variant of RAG1 (P15918)
R841W (p.Arg841Trp) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R841W (p.Arg841Trp) variant details
- p.Arg841Trp
- rs104894287
- ClinGen CA122907
- ClinVar RCV000014040
- ClinVar RCV001205083
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.89
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in T-CMVA)
- UniProt: Pathogenic (in T-CMVA)
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical… (PMID 11133745)
- Cited in: A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. (PMID 16276422)