T77A (p.Thr77Ala) variant of RAG2 (P55895)
T77A (p.Thr77Ala) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T77A (p.Thr77Ala) variant details
- p.Thr77Ala
- gnomAD 11-36593940-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.31
- CADD 20.60
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.237
- Literature evidence available