A10T (p.Ala10Thr) variant of BUB1B (O60566)
A10T (p.Ala10Thr) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- gnomAD 15-40161248-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.04
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available