E79Q (p.Glu79Gln) variant of NOTCH3 (Q9UM47)
E79Q (p.Glu79Gln) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E79Q (p.Glu79Gln) variant details
- p.Glu79Gln
- TOPMed rs969513308
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.34
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available