E18K (p.Glu18Lys) variant of BUB1B (O60566)
E18K (p.Glu18Lys) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- TOPMed rs2037079729
- gnomAD rs2037079729
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.15
- CADD 28.00
- PolyPhen-2 0.45
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available