E38G (p.Glu38Gly) variant of NOTCH2 (Q04721)
E38G (p.Glu38Gly) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- 1000Genomes rs587603038
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.11
- CADD 19.30
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available