A46V (p.Ala46Val) variant of BUB1B (O60566)
A46V (p.Ala46Val) in BUB1B (O60566) is a missense 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.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- gnomAD 15-40165154-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.10
- CADD 25.40
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available