L17M (p.Leu17Met) variant of NOTCH2 (Q04721)
L17M (p.Leu17Met) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD rs1553217920
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.86
- SIFT 0.10
- Population evidence available
- Structural context available