L9M (p.Leu9Met) variant of NOTCH2 (Q04721)
L9M (p.Leu9Met) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- gnomAD rs1553217934
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.37
- CADD 22.80
- PolyPhen-2 0.86
- SIFT 0.25
- Population evidence available
- Structural context available