Q80H (p.Gln80His) variant of ANGPTL3 (Angiopoietin-related protein 3)
Q80H (p.Gln80His) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q80H (p.Gln80His) variant details
- p.Gln80His
- gnomAD 1-62597806-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.35
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available