F62L (p.Phe62Leu) variant of BUB1B (O60566)
F62L (p.Phe62Leu) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- rs779439053
- ClinGen CA7475404
- ClinVar RCV002918642
- ClinVar RCV003167933
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.56
- MetaLR 0.44
- MetaSVM -0.26
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.03
- 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 0.00011)
- 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)