L8S (p.Leu8Ser) variant of ANGPTL3 (Angiopoietin-related protein 3)
L8S (p.Leu8Ser) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L8S (p.Leu8Ser) variant details
- p.Leu8Ser
- gnomAD 1-62597586-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 24.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available