A50S (p.Ala50Ser) variant of BUB1B (O60566)
A50S (p.Ala50Ser) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- rs1355489592
- ClinGen CA391677238
- ClinVar RCV002389671
- ClinVar RCV006470053
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.09
- CADD 17.30
- PolyPhen-2 0.11
- SIFT 0.73
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)