Q80* (p.Gln80Ter) variant of ANGPTL3 (Angiopoietin-related protein 3)
Q80* (p.Gln80Ter) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- gnomAD 1-62597804-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available