G35D (p.Gly35Asp) variant of RAG2 (P55895)
G35D (p.Gly35Asp) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- gnomAD 11-36594065-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- 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 -0.291
- Literature evidence available