P31R (p.Pro31Arg) variant of BUB1B (O60566)
P31R (p.Pro31Arg) 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 0.42 / 1. The record also includes published literature and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- rs1417220294
- ClinGen CA391677057
- ClinVar RCV002371520
- TOPMed rs1417220294
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.73
- MetaLR 0.26
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.45
- 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)