G39E (p.Gly39Glu) variant of NOTCH2 (Q04721)
G39E (p.Gly39Glu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G39E (p.Gly39Glu) variant details
- p.Gly39Glu
- gnomAD rs1553210717
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.86
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 6e-05)
- Structural context available