S24F (p.Ser24Phe) variant of ANGPTL3 (Angiopoietin-related protein 3)
S24F (p.Ser24Phe) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- gnomAD 1-62597634-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 18.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available