L7R (p.Leu7Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
L7R (p.Leu7Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- gnomAD 1-62597586-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available