P74T (p.Pro74Thr) variant of BUB1B (O60566)
P74T (p.Pro74Thr) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P74T (p.Pro74Thr) variant details
- p.Pro74Thr
- gnomAD 15-40170102-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.83
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available