L55V (p.Leu55Val) variant of BUB1B (O60566)
L55V (p.Leu55Val) 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 0.34 / 1. The record also includes published literature and structural context.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- rs2037081264
- ClinGen CA391677304
- NCI-TCGA Cosmic COSV5501
- cosmic curated COSV55010
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -0.91
- PolyPhen-2 0.69
- SIFT 0.23
- MutPred 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- 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)