A10S (p.Ala10Ser) variant of BUB1B (O60566)
A10S (p.Ala10Ser) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- TOPMed rs1379043354
- gnomAD rs1379043354
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.99
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available