C9* (p.Cys9Ter) variant of LAMC2 (Laminin subunit gamma-2)
C9* (p.Cys9Ter) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C9* (p.Cys9Ter) variant details
- p.Cys9Ter
- gnomAD 1-183186379-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available