C51* (p.Cys51Ter) variant of NOTCH2 (Q04721)
C51* (p.Cys51Ter) in NOTCH2 (Q04721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C51* (p.Cys51Ter) variant details
- p.Cys51Ter
- Ensembl rs2101329597
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- Population evidence available
- Structural context available