P31L (p.Pro31Leu) variant of BUB1B (O60566)
P31L (p.Pro31Leu) 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 0.56 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- TOPMed rs1417220294
- gnomAD rs1417220294
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.55
- AlphaMissense 0.73
- MetaLR 0.26
- MetaSVM -0.55
- CADD 24.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available