H47Y (p.His47Tyr) variant of RAG2 (P55895)
H47Y (p.His47Tyr) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H47Y (p.His47Tyr) variant details
- p.His47Tyr
- TOPMed rs1460496199
- gnomAD rs1460496199
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.508