G95E (p.Gly95Glu) variant of NOTCH2 (Q04721)
G95E (p.Gly95Glu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G95E (p.Gly95Glu) variant details
- p.Gly95Glu
- ExAC rs782475359
- TOPMed rs782475359
- gnomAD rs782475359
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.89
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available