G71E (p.Gly71Glu) variant of BUB1B (O60566)
G71E (p.Gly71Glu) 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 0.71 / 1. The record also includes population frequency data and structural context.
G71E (p.Gly71Glu) variant details
- p.Gly71Glu
- rs777922307
- ClinGen CA7475410
- ClinVar RCV002240981
- ExAC rs777922307
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.68
- MetaLR 0.55
- MetaSVM 0.30
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available