W522C (p.Trp522Cys) variant of RAG1 (P15918)
W522C (p.Trp522Cys) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W522C (p.Trp522Cys) variant details
- p.Trp522Cys
- rs193922461
- ClinGen CA213430
- ClinVar RCV000022745
- ClinVar RCV000519696
- Pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- 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: Hypomorphic Rag mutations can cause destructive midline granulomatous disease. (PMID 20489056)