M15I (p.Met15Ile) variant of BUB1B (O60566)
M15I (p.Met15Ile) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M15I (p.Met15Ile) variant details
- p.Met15Ile
- rs1402555575
- ClinGen CA391676886
- ClinVar RCV002342368
- ClinVar RCV003094779
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.04
- CADD 21.90
- PolyPhen-2 0.23
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance (in a colorectal cancer cell line)
- UniProt: Uncertain significance (in a colorectal cancer cell line)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)