V25* (p.Val25Ter) variant of CAV3 (Caveolin-3)
V25* (p.Val25Ter) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V25* (p.Val25Ter) variant details
- p.Val25Ter
- gnomAD 3-8733947-TG-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available