K58R (p.Lys58Arg) variant of RAG2 (P55895)
K58R (p.Lys58Arg) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K58R (p.Lys58Arg) variant details
- p.Lys58Arg
- gnomAD 11-36593996-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.24
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.126
- Literature evidence available