C40* (p.Cys40Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)
C40* (p.Cys40Ter) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C40* (p.Cys40Ter) variant details
- p.Cys40Ter
- gnomAD X-108539784-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available