S24* (p.Ser24Ter) variant of ANGPTL3 (Angiopoietin-related protein 3)
S24* (p.Ser24Ter) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S24* (p.Ser24Ter) variant details
- p.Ser24Ter
- Ensembl rs1364780951
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 24.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available