R737C (p.Arg737Cys) variant of RAG1 (P15918)
R737C (p.Arg737Cys) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.83 / 1. The record also includes population frequency data and structural context.
R737C (p.Arg737Cys) variant details
- p.Arg737Cys
- rs760816389
- ClinGen CA5950227
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV003475554
- Pathogenic/Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.85
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available