S16Y (p.Ser16Tyr) variant of BUB1B (O60566)
S16Y (p.Ser16Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
S16Y (p.Ser16Tyr) variant details
- p.Ser16Tyr
- rs1364339094
- ClinGen CA391676892
- ClinVar RCV004508281
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.05
- PolyPhen-2 0.33
- SIFT 0.01
- MutPred 0.32
- ClinVar: Uncertain significance (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)