T40M (p.Thr40Met) variant of BUB1B (O60566)
T40M (p.Thr40Met) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Premature chromatid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- rs56079734
- ClinGen CA157765
- cosmic curated COSV10459
- ClinVar RCV000007150
- Benign/Likely benign
- Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Premature chromatid
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -1.25
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Benign/Likely benign (Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Prem)
- EBI: Pathogenic (in dbSNP:rs56079734)
- UniProt: Pathogenic (in dbSNP:rs56079734)
- Most common in the HGDP:YORUBA population (allele frequency 0.12)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Mutations of mitotic checkpoint genes in human cancers. (PMID 9521327)