G19E (p.Gly19Glu) variant of ERBB2 (P04626)
G19E (p.Gly19Glu) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- gnomAD 17-39700286-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 23.80
- Most common in the Middle Eastern population (allele frequency 0.00027)
- Structural context available
- Literature evidence available