F68L (p.Phe68Leu) variant of BUB1B (O60566)
F68L (p.Phe68Leu) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- gnomAD 15-40170084-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.22
- CADD 24.30
- PolyPhen-2 0.62
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available