E2* (p.Glu2Ter) variant of ERBB2 (P04626)
E2* (p.Glu2Ter) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- Ensembl rs2145266957
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available