G54E (p.Gly54Glu) variant of ANGPTL3 (Angiopoietin-related protein 3)
G54E (p.Gly54Glu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- gnomAD 1-62597727-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.67
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available