T77S (p.Thr77Ser) variant of RAG2 (P55895)
T77S (p.Thr77Ser) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T77S (p.Thr77Ser) variant details
- p.Thr77Ser
- gnomAD 11-36593939-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.23
- CADD 11.80
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.237
- Literature evidence available