E7K (p.Glu7Lys) variant of BUB1B (O60566)
E7K (p.Glu7Lys) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs1218056057
- ClinGen CA391676478
- ClinVar RCV002233060
- ClinVar RCV004601233
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.04
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)