G35E (p.Gly35Glu) variant of NOTCH3 (Q9UM47)
G35E (p.Gly35Glu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G35E (p.Gly35Glu) variant details
- p.Gly35Glu
- Ensembl rs2047006730
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.50
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.08
- Population evidence available
- Structural context available