T43I (p.Thr43Ile) variant of RAG2 (P55895)
T43I (p.Thr43Ile) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- gnomAD 11-36594041-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.86
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.618
- Literature evidence available