L57L (p.Leu57Leu) variant of RAG2 (P55895)
L57L (p.Leu57Leu) in RAG2 (P55895) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- gnomAD 11-36593998-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 6.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.108
- Literature evidence available