C7* (p.Cys7Ter) variant of ERBB2 (P04626)
C7* (p.Cys7Ter) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C7* (p.Cys7Ter) variant details
- p.Cys7Ter
- gnomAD 17-39700259-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available