M22I (p.Met22Ile) variant of RAG2 (P55895)
M22I (p.Met22Ile) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M22I (p.Met22Ile) variant details
- p.Met22Ile
- gnomAD rs1851106233
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.38
- CADD 22.70
- 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 -0.121