A14E (p.Ala14Glu) variant of NOTCH2 (Q04721)
A14E (p.Ala14Glu) 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.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- 1000Genomes rs587662181
- ExAC rs587662181
- TOPMed rs587662181
- gnomAD rs587662181
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.43
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available