L8del (p.Leu8del) variant of ANGPTL3 (Angiopoietin-related protein 3)
L8del (p.Leu8del) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L8del (p.Leu8del) variant details
- gnomAD 1-62597584-CCTT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 15.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available