T40A (p.Thr40Ala) variant of BUB1B (O60566)
T40A (p.Thr40Ala) 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.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- rs902578942
- ClinGen CA268764737
- cosmic curated COSV10637
- ClinVar RCV002342806
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.03
- PolyPhen-2 0.71
- SIFT 0.12
- MutPred 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs56079734)
- UniProt: Uncertain significance (in dbSNP:rs56079734)
- 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)