C67R (p.Cys67Arg) variant of RAG2 (P55895)
C67R (p.Cys67Arg) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C67R (p.Cys67Arg) variant details
- p.Cys67Arg
- gnomAD 11-36593970-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.87
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.562
- Literature evidence available