E7E (p.Glu7Glu) variant of BUB1B (O60566)
E7E (p.Glu7Glu) in BUB1B (O60566) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E7E (p.Glu7Glu) variant details
- p.Glu7Glu
- rs1819687564
- gnomAD 15-40161241-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 11.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available