C56* (p.Cys56Ter) variant of ERBB4 (Q15303)
C56* (p.Cys56Ter) in ERBB4 (Q15303) 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 and structural context.
C56* (p.Cys56Ter) variant details
- p.Cys56Ter
- Ensembl rs2125571040
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available