G9A (p.Gly9Ala) variant of BUB1B (O60566)
G9A (p.Gly9Ala) 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; Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- rs768279736
- ClinGen CA7475318
- ClinVar RCV002233660
- ClinVar RCV003163227
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)