G71R (p.Gly71Arg) variant of BUB1B (O60566)
G71R (p.Gly71Arg) 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 0.59 / 1. The record also includes structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- rs2037144496
- ClinGen CA391678447
- ClinVar RCV002239381
- Ensembl rs2037144496
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.74
- MetaLR 0.51
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.63
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available