E60E (p.Glu60Glu) variant of RAG1 (P15918)
E60E (p.Glu60Glu) in RAG1 (P15918) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E60E (p.Glu60Glu) variant details
- p.Glu60Glu
- gnomAD 11-36573484-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 7.39
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available