D65H (p.Asp65His) variant of RAG2 (P55895)
D65H (p.Asp65His) in RAG2 (P55895) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
D65H (p.Asp65His) variant details
- p.Asp65His
- TOPMed rs909264507
- gnomAD rs909264507
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.318