L51V (p.Leu51Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
L51V (p.Leu51Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- ESP rs139687521
- TOPMed rs139687521
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available