E32D (p.Glu32Asp) variant of ANGPTL3 (Angiopoietin-related protein 3)
E32D (p.Glu32Asp) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- gnomAD 1-62597662-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.11
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available