R73C (p.Arg73Cys) variant of RAG2 (P55895)
R73C (p.Arg73Cys) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- rs193922574
- ClinGen CA214218
- cosmic curated COSV57558
- ClinVar RCV001059752
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.109