T54I (p.Thr54Ile) variant of BUB1B (O60566)
T54I (p.Thr54Ile) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- rs755690280
- ClinGen CA391677301
- ClinVar RCV003214104
- ExAC rs755690280
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.03
- CADD 19.40
- PolyPhen-2 0.15
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)