I15M (p.Ile15Met) variant of RAG2 (P55895)
I15M (p.Ile15Met) 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, and structural context.
I15M (p.Ile15Met) variant details
- p.Ile15Met
- TOPMed rs1370226724
- gnomAD rs1370226724
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.33
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score 0.0154