W10* (p.Trp10Ter) variant of NOTCH2 (Q04721)
W10* (p.Trp10Ter) in NOTCH2 (Q04721) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs782598895
- ClinGen CA1041056
- ClinVar RCV001849581
- ExAC rs782598895
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available