G35A (p.Gly35Ala) variant of BUB1B (O60566)
G35A (p.Gly35Ala) 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 0.72 / 1. The record also includes published literature and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- rs2140878494
- ClinGen CA391677101
- ClinVar RCV002401150
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.94
- MetaLR 0.70
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)