L55R (p.Leu55Arg) variant of BUB1B (O60566)
L55R (p.Leu55Arg) in BUB1B (O60566) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L55R (p.Leu55Arg) variant details
- p.Leu55Arg
- TOPMed rs1221553263
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.39
- AlphaMissense 0.41
- MetaLR 0.44
- MetaSVM -0.26
- CADD 29.10
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available