K59K (p.Lys59Lys) variant of BUB1B (O60566)
K59K (p.Lys59Lys) in BUB1B (O60566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K59K (p.Lys59Lys) variant details
- p.Lys59Lys
- gnomAD 15-40165194-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available