P34H (p.Pro34His) variant of NOTCH2 (Q04721)
P34H (p.Pro34His) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P34H (p.Pro34His) variant details
- p.Pro34His
- gnomAD rs1553210721
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.71
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available