A23E (p.Ala23Glu) variant of NOTCH2 (Q04721)
A23E (p.Ala23Glu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- ExAC rs782502909
- gnomAD rs782502909
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available