Q80R (p.Gln80Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
Q80R (p.Gln80Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q80R (p.Gln80Arg) variant details
- p.Gln80Arg
- gnomAD 1-62597805-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.07
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available