W453R (p.Trp453Arg) variant of RAG2 (P55895)
W453R (p.Trp453Arg) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 2 deficiency. 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.
W453R (p.Trp453Arg) variant details
- p.Trp453Arg
- rs1564995627
- ClinGen CA380140542
- ClinVar RCV000681598
- ClinVar RCV001389163
- Pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.95
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Severe combined immunodeficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available