E2E (p.Glu2Glu) variant of ERBB2 (P04626)
E2E (p.Glu2Glu) in ERBB2 (P04626) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 17-39700244-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available