D65R (p.Asp65Arg) variant of RAG2 (P55895)
D65R (p.Asp65Arg) in RAG2 (P55895) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D65R (p.Asp65Arg) variant details
- p.Asp65Arg
- gnomAD 11-36593976-C-CAA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 27.80
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.318
- Literature evidence available