L8F (p.Leu8Phe) variant of ANGPTL3 (Angiopoietin-related protein 3)
L8F (p.Leu8Phe) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- rs1316616797
- gnomAD 1-62597585-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 24.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available