L6* (p.Leu6Ter) variant of ERBB2 (P04626)
L6* (p.Leu6Ter) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L6* (p.Leu6Ter) variant details
- p.Leu6Ter
- gnomAD 17-39700255-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available