P6L (p.Pro6Leu) variant of NOTCH2 (Q04721)
P6L (p.Pro6Leu) 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.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- ExAC rs782374128
- gnomAD rs782374128
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.25
- CADD 24.10
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available