S16* (p.Ser16Ter) variant of ANGPTL3 (Angiopoietin-related protein 3)
S16* (p.Ser16Ter) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S16* (p.Ser16Ter) variant details
- p.Ser16Ter
- gnomAD 1-62597606-GTTATT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available