R60R (p.Arg60Arg) variant of BUB1B (O60566)
R60R (p.Arg60Arg) in BUB1B (O60566) is a protein-truncating 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.
R60R (p.Arg60Arg) variant details
- p.Arg60Arg
- gnomAD 15-40170062-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available