T77I (p.Thr77Ile) variant of RAG2 (P55895)
T77I (p.Thr77Ile) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T77I (p.Thr77Ile) variant details
- p.Thr77Ile
- gnomAD 11-36593939-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- CADD 3.02
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.237
- Literature evidence available