L9P (p.Leu9Pro) variant of NOTCH2 (Q04721)
L9P (p.Leu9Pro) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- TOPMed rs1655666889
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.57
- CADD 23.00
- PolyPhen-2 0.90
- SIFT 0.06
- Population evidence available
- Structural context available