K6E (p.Lys6Glu) variant of BUB1B (O60566)
K6E (p.Lys6Glu) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- gnomAD 15-40161236-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- CADD 20.70
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available