M15T (p.Met15Thr) variant of BUB1B (O60566)
M15T (p.Met15Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
M15T (p.Met15Thr) variant details
- p.Met15Thr
- rs1392369693
- ClinGen CA391676881
- ClinVar RCV001244388
- ClinVar RCV002327592
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -1.01
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in a colorectal cancer cell line)
- UniProt: Uncertain significance (in a colorectal cancer cell line)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Mutations of mitotic checkpoint genes in human cancers. (PMID 9521327)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)