W7* (p.Trp7Ter) variant of COL5A1 (Collagen alpha-1(V) chain)
W7* (p.Trp7Ter) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W7* (p.Trp7Ter) variant details
- p.Trp7Ter
- gnomAD 9-134642207-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available