T70I (p.Thr70Ile) variant of BUB1B (O60566)
T70I (p.Thr70Ile) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T70I (p.Thr70Ile) variant details
- p.Thr70Ile
- rs769980774
- ClinGen CA7475409
- ClinVar RCV002240470
- ClinVar RCV002416408
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.84
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)