L55P (p.Leu55Pro) variant of BUB1B (O60566)
L55P (p.Leu55Pro) 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 0.49 / 1. The record also includes published literature and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs1221553263
- ClinGen CA391677306
- ClinVar RCV001870938
- ClinVar RCV005792181
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.41
- MetaLR 0.44
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)