E63K (p.Glu63Lys) variant of BUB1B (O60566)
E63K (p.Glu63Lys) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- ExAC rs746902649
- TOPMed rs746902649
- gnomAD rs746902649
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.73
- MetaLR 0.60
- MetaSVM 0.44
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available