A46A (p.Ala46Ala) variant of BUB1B (O60566)
A46A (p.Ala46Ala) in BUB1B (O60566) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A46A (p.Ala46Ala) variant details
- p.Ala46Ala
- rs758916538
- gnomAD 15-40165155-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.69
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available