P22H (p.Pro22His) variant of NOTCH2 (Q04721)
P22H (p.Pro22His) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P22H (p.Pro22His) variant details
- p.Pro22His
- ExAC rs782038396
- TOPMed rs782038396
- gnomAD rs782038396
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.13
- SIFT 0.51
- Population evidence available
- Structural context available