A14G (p.Ala14Gly) variant of NOTCH2 (Q04721)
A14G (p.Ala14Gly) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- 1000Genomes rs587662181
- ExAC rs587662181
- TOPMed rs587662181
- gnomAD rs587662181
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.21
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available