D20E (p.Asp20Glu) variant of ANGPTL3 (Angiopoietin-related protein 3)
D20E (p.Asp20Glu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- gnomAD 1-62597626-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0354
- REVEL 0.01
- CADD 0.18
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available