D79I (p.Asp79Ile) variant of ANGPTL3 (Angiopoietin-related protein 3)
D79I (p.Asp79Ile) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D79I (p.Asp79Ile) variant details
- p.Asp79Ile
- rs1207982736
- gnomAD 1-62597800-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available