E54E (p.Glu54Glu) variant of RAG1 (P15918)
E54E (p.Glu54Glu) in RAG1 (P15918) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- rs1850779315
- gnomAD 11-36573466-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 5.54
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available