L69L (p.Leu69Leu) variant of RAG2 (P55895)
L69L (p.Leu69Leu) in RAG2 (P55895) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L69L (p.Leu69Leu) variant details
- p.Leu69Leu
- gnomAD 11-36593962-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 5.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.328
- Literature evidence available