A46T (p.Ala46Thr) variant of BUB1B (O60566)
A46T (p.Ala46Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs750858057
- ClinGen CA7475355
- ClinVar RCV002235565
- ClinVar RCV002381865
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.27
- SIFT 0.25
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)