W16* (p.Trp16Ter) variant of NOTCH2 (Q04721)
W16* (p.Trp16Ter) in NOTCH2 (Q04721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- gnomAD rs1553217924
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 35.00
- Population evidence available
- Structural context available