I37N (p.Ile37Asn) variant of BUB1B (O60566)
I37N (p.Ile37Asn) in BUB1B (O60566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 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 and structural context.
I37N (p.Ile37Asn) variant details
- p.Ile37Asn
- ExAC rs753844539
- TOPMed rs753844539
- gnomAD rs753844539
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.00
- CADD 23.20
- PolyPhen-2 0.16
- SIFT 0.53
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available