G44* (p.Gly44Ter) variant of RAG2 (P55895)
G44* (p.Gly44Ter) in RAG2 (P55895) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G44* (p.Gly44Ter) variant details
- p.Gly44Ter
- rs1440633758
- ClinGen CA380144505
- ClinVar RCV001943182
- ClinVar RCV003401875
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.961