Q58K (p.Gln58Lys) variant of BUB1B (O60566)
Q58K (p.Gln58Lys) 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; Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- rs1308870659
- ClinGen CA391677334
- ClinVar RCV001962458
- ClinVar RCV002397957
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.87
- CADD 20.80
- PolyPhen-2 0.20
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- 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)