C19Y (p.Cys19Tyr) variant of NOTCH2 (Q04721)
C19Y (p.Cys19Tyr) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- ExAC rs782166299
- gnomAD rs782166299
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.10
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.97
- Population evidence available
- Structural context available