A11E (p.Ala11Glu) variant of NOTCH2 (Q04721)
A11E (p.Ala11Glu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- ExAC rs782442735
- TOPMed rs782442735
- gnomAD rs782442735
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.44
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available