H47R (p.His47Arg) variant of RAG2 (P55895)
H47R (p.His47Arg) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- gnomAD 11-36594029-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.30
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.508
- Literature evidence available