N28S (p.Asn28Ser) variant of BUB1B (O60566)
N28S (p.Asn28Ser) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- gnomAD rs1458893678
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.55
- MetaLR 0.50
- MetaSVM 0.09
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.56
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available