D20N (p.Asp20Asn) variant of BUB1B (O60566)
D20N (p.Asp20Asn) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- ExAC rs748869091
- gnomAD rs748869091
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available