S16F (p.Ser16Phe) variant of BUB1B (O60566)
S16F (p.Ser16Phe) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- rs1364339094
- ClinGen CA391676896
- cosmic curated COSV55010
- ClinVar RCV001067637
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.04
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.33
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available