C9* (p.Cys9Ter) variant of CNTNAP2 (Q9UHC6)
C9* (p.Cys9Ter) in CNTNAP2 (Q9UHC6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C9* (p.Cys9Ter) variant details
- p.Cys9Ter
- gnomAD 7-146116903-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available