E23D (p.Glu23Asp) variant of BUB1B (O60566)
E23D (p.Glu23Asp) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- rs2037080053
- ClinGen CA391676972
- ClinVar RCV002378216
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.32
- MetaLR 0.17
- MetaSVM -0.88
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.33
- 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)