D65G (p.Asp65Gly) variant of RAG2 (P55895)
D65G (p.Asp65Gly) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- gnomAD 11-36593975-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.81
- CADD 26.40
- PolyPhen-2 0.65
- SIFT 0.02
- 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 -0.318
- Literature evidence available