Q33* (p.Gln33Ter) variant of RAG2 (P55895)
Q33* (p.Gln33Ter) in RAG2 (P55895) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- Ensembl rs866757104
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- 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 -0.001