L4M (p.Leu4Met) variant of NOTCH2 (Q04721)
L4M (p.Leu4Met) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- ExAC rs782725828
- TOPMed rs782725828
- gnomAD rs782725828
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.23
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.08
- Population evidence available
- Structural context available