G35R (p.Gly35Arg) variant of BUB1B (O60566)
G35R (p.Gly35Arg) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- TOPMed rs2037080369
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.90
- MetaLR 0.70
- MetaSVM 0.49
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available