E32Q (p.Glu32Gln) variant of ANGPTL3 (Angiopoietin-related protein 3)
E32Q (p.Glu32Gln) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- ExAC rs746416387
- TOPMed rs746416387
- gnomAD rs746416387
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available