L17R (p.Leu17Arg) variant of BUB1B (O60566)
L17R (p.Leu17Arg) in BUB1B (O60566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- rs753928720
- gnomAD 15-40165066-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available