Q80E (p.Gln80Glu) variant of ANGPTL3 (Angiopoietin-related protein 3)
Q80E (p.Gln80Glu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q80E (p.Gln80Glu) variant details
- p.Gln80Glu
- TOPMed rs201052110
- gnomAD rs201052110
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.14
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available