G19R (p.Gly19Arg) variant of BUB1B (O60566)
G19R (p.Gly19Arg) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- gnomAD 15-40165072-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.17
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available