C39* (p.Cys39Ter) variant of COL4A3 (Collagen alpha-3(IV) chain)
C39* (p.Cys39Ter) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
C39* (p.Cys39Ter) variant details
- p.Cys39Ter
- gnomAD 2-227237997-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available