C51R (p.Cys51Arg) variant of BUB1B (O60566)
C51R (p.Cys51Arg) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- rs375885859
- ClinGen CA268764849
- ClinVar RCV003238578
- ESP rs375885859
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available