A2T (p.Ala2Thr) variant of BUB1B (O60566)
A2T (p.Ala2Thr) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 15-40161224-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.08
- CADD 24.20
- PolyPhen-2 0.08
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available