E18E (p.Glu18Glu) variant of BUB1B (O60566)
E18E (p.Glu18Glu) in BUB1B (O60566) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- rs777141944
- gnomAD 15-40165071-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 8.53
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available